Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Skin
Cell Type Stem cell
Tissue Type Induced pluripotent stem cell
Transformant Reprogrammed (Retroviral)
Race Caucasian
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks 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.
Passage Frozen 27
 
Induced Pluripotent Stem Cell 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.
 
Gene FXN
Chromosomal Location 9q13-q21.1
Allelic Variant 1 606829.0001; FRIEDREICH ATAXIA
Identified Mutation (GAA)n EXPANSION; GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 out of 74 FRDA patients studied by Campuzano et al. [Science 271: 1423-1427 (1996)]. In unaffected individuals the triplet expansion numbered between 7 and 20 units.
 
Gene FXN
Chromosomal Location 9q13-q21.1
Allelic Variant 2 606829.0001; FRIEDREICH ATAXIA
Identified Mutation (GAA)n EXPANSION; GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 out of 74 FRDA patients studied by Campuzano et al. [Science 271: 1423-1427 (1996)]. In unaffected individuals the triplet expansion numbered between 7 and 20 units.
Remark 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.
Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent LC, Loring JF, Napierala M, Gottesfeld JM, Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA·TTC triplet repeat instability Cell stem cell7:631-7 2009
PubMed ID: 21040903
No data is available
Passage Frozen 27
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Ham's F12 Medium/Dulbecco Modified Eagles Medium, 1:1 mixture with 2mM L-glutamine or equivalent
Serum 20% Knock-out Serum Replacement Not inactivated
Substrate Gelatin + Feeder Layer
Supplement Basic Fibroblast Growth Factor 20ng/ml