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GM23404-iPSC

eagle-i ID

http://shared.eagle-i.net/i/00000144-8a4b-aa3f-5797-c9ee80000000

Resource Type

  1. Induced pluripotent stem cell line

Properties

  1. Source Developmental Stage
    Post-juvenile adult stage
  2. Source Human Subject
    GM23404-HS
  3. Exchange facilitator
    <html> <a href=http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?Ref=GM23404&PgId=166><img src="http://ccr.coriell.org/Images/c_logo.jpg"></a> </html>
  4. Induction Reagents
    retrovirus
  5. Karyotype Description
    46,XX
  6. Resource Description
    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.
  7. Access Restriction(s)
    MTA required
  8. Related Disease
    Friedreich ataxia
  9. Related Publication or Documentation
    NIGMS MTA
  10. Related Publication or Documentation
    Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA·TTC triplet repeat instability
  11. Website(s)
    http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?Ref=GM23404&PgId=166
  12. Genetic Alteration(s)
    FXN(GAA)n Expansion
  13. Source Anatomical Structure
    Zone of skin
  14. Source Organism Type
    Homo sapiens
  15. Catalog Number
    GM23404
  16. Subject Age at Sampling
    36
  17. Location
    NIGMS Repository (@Coriell)
 
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Provenance Metadata About This Resource Record

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