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GM23937-iPSC

eagle-i ID

http://shared.eagle-i.net/i/00000144-8acd-1a67-5797-c9ee80000000

Resource Type

  1. Induced pluripotent stem cell line

Properties

  1. Source Developmental Stage
    Neonate stage
  2. Source Human Subject
    GM23937-HS
  3. Exchange facilitator
    <html> <a href=http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?Ref=GM23937&PgId=166><img src="http://ccr.coriell.org/Images/c_logo.jpg"></a> </html>
  4. Induction Reagents
    retrovirus
  5. Karyotype Description
    46,XY
  6. Resource Description
    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.
  7. Access Restriction(s)
    MTA required
  8. Related Disease
    Tay-Sachs disease
  9. Related Publication or Documentation
    NIGMS MTA
  10. Website(s)
    http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?Ref=GM23937&PgId=166
  11. Genetic Alteration(s)
    HEXA(1278_1279insTATC)
  12. Source Anatomical Structure
    Zone of skin
  13. Source Organism Type
    Homo sapiens
  14. Catalog Number
    GM23937
  15. Subject Age at Sampling
    Yes
  16. Location
    NIGMS Repository (@Coriell)
 
RDFRDF
 
Provenance Metadata About This Resource Record

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The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016