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 2
Family History N
Relation to Proband brother
Confirmation Molecular characterization after cell line submission to CCR
ISCN 46,XY
Species Homo sapiens
Common Name Human
Remarks Clinically affected; ataxia; cardiomyopathy; mild peripheral neuropathy; proband is GM03816; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 541 and 420 repeats; parent fibroblast is GM04078; see GM04079 lymphocyte.
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 the PluriTest. Steady-state mRNA expression patterns of undifferentiated iPSCs and EBs were determined via real-time PCR. 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 Clinically affected; ataxia; cardiomyopathy; mild peripheral neuropathy; proband is GM03816; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 541 and 420 repeats; parent fibroblast is GM04078; see GM04079 lymphocyte.
No data is available
No data is available
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
Substrate Gelatin + Feeder Layer