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NIGMS Repository (@Coriell)

Summary:

The Human Genetic Cell Repository, sponsored by the National Institute of General Medical Sciences, provides scientists around the world with resources for cell and genetic research. The samples include highly characterized cell lines and high quality DNA. Repository samples represent a variety of disease states, chromosomal abnormalities, apparently healthy individuals and many distinct human populations.

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  • GM23225-iPSC ( Induced pluripotent stem cell line )

    HUNTINGTON DISEASE; HD
    Induced pluripotent stem cell line derived from GM04281 by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1), SOX2, Klf4 and cMyc (Park et al. Cell 134:877-86, 2008); the HTT gene CAG repeat numbers for this iPSC line are 17 and 72, as determined by Coriell's Molecular Biology Laboratory.
    (CAG)n EXPANSION; Huntington disease is caused by expansion of a polymorphic trinucleotide repeat (CAG)n located in the coding region of the gene for huntingtin. The range of repeat numbers is 9 to 37 in normal individuals and 37 to 86 in HD patients.

  • GM23226-iPSC ( Induced pluripotent stem cell line )

    DIABETES MELLITUS, JUVENILE-ONSET INSULIN-DEPENDENT; IDDM. Induced pluripotent stem cell line derived from GM02416 by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1), SOX2, Klf4 and cMyc (Park et al. Cell 134:877-86, 2008)

  • GM23230-iPSC ( Induced pluripotent stem cell line )

    MUSCULAR DYSTROPHY, BECKER TYPE; BMD. nduced pluripotent stem cell line derived from GM04569 Fibroblast; Clinically affected with Becker muscular dystrophy; presented at age 22 with muscle weakness; initially carried diagnosis of Limb-Girdle muscular dystrophy; calf hypertrophy since childhood; tightness around legs noted as young child; difficulty walking up stairs noted at age 13-14; muscle weakness and atrophy of the biceps noted at age 22; by age 33 there was lordosis, grade III weakness of shoulder girdle, absent bicep jerks and modified Gower's maneuver; by age 37 there were absent bicep and tricep reflexes, normal brachioradialis, decreased patellar and ankle jerk on left but normal on the right, grade II weakness of the biceps and triceps, normal grip and forearm strength, grade II to III weakness of hamstrings with associated weakness of the adductors of the quadriceps, normal strength in the calves, ankles and feet, broadbased and labored gait due to weakness; twin brother (possibly identical) also affected; CPK of 1,718 at age 33; transaminase of 73 at age 33; muscle biopsy showed alteration of a long standing chronic myopathy and could be consistent with Limb-Girdle muscular dystrophy or Beckers muscular dystrophy; electromyogram showed primary myopathic changes; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed no detectable mutations.

  • GM23232-iPSC ( Induced pluripotent stem cell line )

    SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
    Induced pluripotent stem cell line derived from GM01390 by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1), SOX2, Klf4 and cMyc. ADA mutations found in fibroblasts used for reprogramming were verified in the iPSCs -- cells were compound heterozygous for mutations in the ADA gene: one allele had a G>A transition at nucleotide 646 in exon 7 of the ADA gene [646G>A] resulting in a substitution of arginine for glycine at codon 216[Gly216Arg(G216R)]; the other allele had a 5-nucleotide deletion (del nt1050-54; GAAGA), found by direct sequence analysis of exon 10 (PMID: (Park et al. Cell 134:877-86, 2008).

  • GM23240-iPSC ( Induced pluripotent stem cell line )

    SPINAL MUSCULAR ATROPHY I; SMA1
    Induced pluripotent stem cell line derived from GM03813 by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1), SOX2, NANOG and LIN28 (Ebert et al. Nature 457:277-80, 2009)

  • GM23262-iPSC ( Induced pluripotent stem cell line )

    MUSCULAR DYSTROPHY, BECKER TYPE; BMD. Induced pluripotent stem cell line derived from GM04981 by reprogramming with lentiviral constructs encoding OCT4 (also known as POU5F1), SOX2, Klf4 and cMyc (Park et al. Cell 134:877-86, 2008); Park et al. confirmed deletion of exons 45-52 in the DMD gene. Clinically affected; Becker type; positive Gower's sign; significant lordosis; pseudohypertrophy of calves; muscle weakness; atrophy of shoulder girdle musculature; muscle biopsy diagnosed muscular dystrophy with the comment "although the number of actively degenerating fibers in this sample is small, neither the character nor the degree of change enables one to distinguish Becker from Duchenne dystrophy"; elevated CPK of 2,840; PCR analysis of dystrophin gene shows deletion starting at (and including) exon 45 through at least exon 52; exon 60 is not deleted; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 45-53; 2 affected maternal uncles.

  • GM23279-iPSC ( Induced pluripotent stem cell line )

    Induced pluripotent stem cell line made from facial dermal fibroblasts; retroviruses used contained human Oct3/4, Sox2, Klf4, and c-Myc. Prior to ordering this iPSC line, for-profit institutions must contact iPS Academia Japan, Inc. to obtain a license: iPS Academia Japan, Inc. 448-5-201, Kajii-cho, Imadegawa Kawaramachi, Kamigyo-ku Kyoto-shi, Kyoto, 602-0841, JAPAN Attn.: License Department Phone: +81-75-256-8582, Fax: +81-75-256-6211 E-mail: license@ips-ac.co.jp -- APPARENTLY HEALTHY NON-FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23280-iPSC ( Induced pluripotent stem cell line )

    Induced pluripotent stem cell line made from facial dermal fibroblasts; retroviruses used contained human Oct3/4, Sox2, Klf4, and c-Myc. Prior to ordering this iPSC line, for-profit institutions must contact iPS Academia Japan, Inc. to obtain a license: iPS Academia Japan, Inc. 448-5-201, Kajii-cho, Imadegawa Kawaramachi, Kamigyo-ku Kyoto-shi, Kyoto, 602-0841, JAPAN Attn.: License Department Phone: +81-75-256-8582, Fax: +81-75-256-6211 E-mail: license@ips-ac.co.jp -- APPARENTLY HEALTHY NON-FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23298-iPSC ( Induced pluripotent stem cell line )

    RETT SYNDROME; RTT
    METHYL-CPG-BINDING PROTEIN 2; MECP2
    Induced pluripotent stem cell line made from GM11270 Fibroblast; clinically affected; classical symptoms; normal lysosomal enzymes; 46,XX in PBL; donor carries a missense mutation, 916C>T [Arg306Cys (R306C)], in the gene encoding methyl-CpG binding protein 2 (MECP2)

  • GM23338-iPSC ( Induced pluripotent stem cell line )

    Induced pluripotent stem cell line; Participant #1 (hu43860C) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this cell line was made is GM23248and a matching lymphoblast line from this same subject is GM20431. -- APPARENTLY HEALTHY NON-FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23340-iPSC ( Induced pluripotent stem cell line )

    Induced pluripotent stem cell line; Participant #4 (huE80E3D) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this line was made is GM23249; matching lymphoblast line from this same subject is GM21677. Induced pluripotent stem cell line; Participant #4 (huE80E3D) in the Personal Genome Project: http://www.personalgenomes.org Fibroblast culture from this same subject from which this line was made is GM23249; matching lymphoblast line from this same subject is GM21677. -- APPARENTLY HEALTHY NON-FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23392-iPSC ( Induced pluripotent stem cell line )

    iPS line from lung fibroblast cell culture GM06114; 46,XY; 12% of cells show random chromosome loss. APPARENTLY HEALTHY FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23394-iPSC ( Induced pluripotent stem cell line )

    iPS line from foreskin fibroblast culture GM08333; 46,XY with 4% of the cells examined showing random chromosome loss and 2% showing random chromosomal aberrations. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23396-iPSC ( Induced pluripotent stem cell line )

    iPS line from skin fibroblast culture GM06111; 46,XX; 6% of cells show random chromosome loss. APPARENTLY HEALTHY FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23404-iPSC ( Induced pluripotent stem cell line )

    FRIEDREICH ATAXIA 1; FRDA
    FRATAXIN; FXN. iPS cell line made from GM03816; clinically affected; spinal-cerebral degeneration with myocardiopathy; a brother (GM04078/GM04079)is similarly affected; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 330 and 380 repeats.

  • GM23411-iPSC ( Induced pluripotent stem cell line )

    iPS cell line derived from skin fibroblast GM00041; Puerto Rican; mother is GM00037. APPARENTLY HEALTHY NON-FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23413-iPSC ( Induced pluripotent stem cell line )

    iPS cell line derived from lung fibroblast GM06112; same patient as GM06111; 46,XX; 4% of cells show random chromosome loss. APPARENTLY HEALTHY FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23446-iPSC ( Induced pluripotent stem cell line )

    iPS cell line derived from skin fibroblast GM00041; Puerto Rican; mother is GM00037. APPARENTLY HEALTHY NON-FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23450-iPSC ( Induced pluripotent stem cell line )

    Induced pluripotent stem cell culture derived from skin fibroblast GM06113; same patient as GM06114. APPARENTLY HEALTHY FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23476-iPSC ( Induced pluripotent stem cell line )

    Induced pluripotent stem cell culture derived from GM04506 Fibroblasts; line HF25; monozygotic twin of GM04505A. APPARENTLY HEALTHY NON-FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23716-iPSC ( Induced pluripotent stem cell line )

    Induced pluripotent stem cell line derived from GM06111 Fibroblast. APPARENTLY HEALTHY FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23717-iPSC ( Induced pluripotent stem cell line )

    MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
    Induced pluripotent stem cell line derived from GM23311; Clinically affected; symptom onset before 2 years of age; elevated creatine kinase (200-2,000 IU/L); diagnosis confirmed by muscle imaging and biopsy; abnormal white matter in brain by MRI/CT scan; head held up without assistance; turned in bed by age three years; no other milestones have been achieved; night time respiratory support; donor subject is a compound heterozygote: maternal allele has a 2 bp deletion in exon 14 of the LAMA2 gene (2049_2050delAG); the paternal allele has a C>T transition at nucleotide 7732 in exon 55 (7732C>T) resulting in a premature stop at codon 2578 [Arg2578Ter (R2578X)].

  • GM23720-iPSC ( Induced pluripotent stem cell line )

    Induced pluripotent stem cell line derived from GM02254 Lymphoid APPARENTLY HEALTHY NON-FETAL TISSUE. The cell line submitted to the Repository frozen was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation and directed differentiation toward cardiac neuronal and pancreatic lineages. Steady-state mRNA expression patterns of undifferentiated iPSC EB and differentiated iPSC were determined via real-time PCR. The line was evaluated for in vivo pluripotency via teratoma formation assay. Characterization data are included in the Certificate of Analysis.

  • GM23760-iPSC ( Induced pluripotent stem cell line )

    SCHIZOPHRENIA; SCZD
    Induced pluripotent stem cell culture derived from GM01792 Fibroblast; see GM01793 Lymphoid; episodes of agitation, delusions of persecution, and fear of assassination; father also affected.

  • GM23761-iPSC ( Induced pluripotent stem cell line )

    SCHIZOPHRENIA; SCZD
    Induced pluripotent stem cell culture derived from GM01835 Fibroblast; see GM01836 Lymphoid; hospitalized; drug abuse; father also affected; schizo-affective disorder.

  • GM23762-iPSC ( Induced pluripotent stem cell line )

    SCHIZOPHRENIA; SCZD
    Induced pluripotent stem cell culture derived from GM02497 Fibroblast; see GM01488 Lymphoid; paralogical thinking, affective shielding, splitting of affect from content, and suspiciousness; onset at age 15; hospitalized; positive family history.

  • GM23764-iPSC ( Induced pluripotent stem cell line )

    SCHIZOPHRENIA; SCZD
    Induced pluripotent stem cell line derived from GM02503 fibroblast; see GM01490 lymphoid; anorexia nervosa since adolescence; more schizoid than depressed.

  • GM23913-iPSC ( Induced pluripotent stem cell line )

    FRIEDREICH ATAXIA 1; FRDA
    FRATAXIN; FXN. Clinically affected; ataxia; cardiomyopathy; mild peripheral neuropathy; proband is GM03816; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 541 and 420 repeats; parent fibroblast is GM04078; see GM04079 lymphocyte.

  • GM23937-iPSC ( Induced pluripotent stem cell line )

    TAY-SACHS DISEASE; TSD
    HEXOSAMINIDASE A; HEXA
    Affected; bilateral cherry-red spots; behavioral problems; progressive encephalopathy; deficient hexosaminidase A activity in blood; donor subject is homozygous for a 4 base pair insertion in exon 11 of the HEXA gene [1278_1279insTATC] resulting in a premature termination signal; induced pluripotent stem cell line derived from GM11853.

  • GM24468-iPSC ( Induced pluripotent stem cell line )

    SPINAL MUSCULAR ATROPHY I; SMA1
    Clinically affected; marked muscle atrophy and weakness; similarly affected brother; donor subject has 2 copies of the SMN2 gene; PCR analysis showed that the donor subject is homozygous for the deletion of exons 7 and 8 in the SMN1 gene; mutation data obtained is that for the parental line; parental fibroblast is GM03813.

  • GM24474-iPSC ( Induced pluripotent stem cell line )

    SPINAL MUSCULAR ATROPHY I; SMA1
    Clinically normal; 2 affected children; PCR analysis showed: donor subject has two copies of the SMN2; donor subject is heterozygous for deletion of exons 7 and 8 in the SMN1 gene; mutation data obtained is that for the parental line; unstable cytogenetically; parent fibroblast is GM03814.


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Last updated: 2015-10-22T13:10:18.885-05:00

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