eagle-i eagle-i Network Shared Resource Repositoryeagle-i Network Shared Resource Repository
See it in Search
This page is a preview of the following resource. Continue onto eagle-i search using the button on the right to see the full record.

GM24474-iPSC

eagle-i ID

http://shared.eagle-i.net/i/00000144-8ac1-938e-5797-c9ee80000000

Resource Type

  1. Induced pluripotent stem cell line

Properties

  1. Source Developmental Stage
    Juvenile stage
  2. Source Human Subject
    GM24474-HS
  3. Exchange facilitator
    <html> <a href=http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?Ref=GM24474&PgId=166><img src="http://ccr.coriell.org/Images/c_logo.jpg"></a> </html>
  4. Induction Reagents
    Episomal
  5. Karyotype Description
    46,XX
  6. Resource Description
    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.
  7. Access Restriction(s)
    MTA required
  8. Related Disease
    spinal muscular atrophy
  9. Related Publication or Documentation
    NIGMS MTA
  10. Website(s)
    http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?Ref=GM24474&PgId=166
  11. Genetic Alteration(s)
    SMN1(del EXON7-8)
  12. Source Anatomical Structure
    Zone of skin
  13. Source Organism Type
    Homo sapiens
  14. Catalog Number
    GM24474
  15. Location
    NIGMS Repository (@Coriell)
 
RDFRDF
 
Provenance Metadata About This Resource Record

Copyright © 2016 by the President and Fellows of Harvard College
The eagle-i Consortium is supported by NIH Grant #5U24RR029825-02 / Copyright 2016