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eagle-i ID


Resource Type

  1. Induced pluripotent stem cell line


  1. Source Developmental Stage
    Neonate stage
  2. Source Human Subject
  3. Exchange facilitator
    <html> <a href=http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?Ref=GM23225&PgId=166><img src="http://ccr.coriell.org/Images/c_logo.jpg"></a> </html>
  4. Induction Reagents
  5. Karyotype Description
  6. Resource Description
    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.
  7. Access Restriction(s)
    MTA required
  8. Related Disease
    Huntington's disease
  9. Related Publication or Documentation
    Disease-Specific Induced Pluripotent Stem Cells
  10. Website(s)
  11. Genetic Alteration(s)
  12. Source Anatomical Structure
    Zone of skin
  13. Source Organism Type
    Homo sapiens
  14. Catalog Number
  15. Potency
  16. Subject Age at Sampling
  17. Location
    NIGMS Repository (@Coriell)
Provenance Metadata About This Resource Record

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