Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Nervous System
Class Disorders with Trinucleotide Expansions
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Caucasian
Family Member 2
Relation to Proband brother
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; ataxia; cardiomyopathy; mild peripheral neuropathy; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 541 and 420 repeats; affected sister is GM03816; see GM04079 Lymphocyte.
PDL at Freeze 5.78
Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
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; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 541 and 420 repeats; affected sister is GM03816; see GM04079 Lymphocyte.
Napierala JS, Li Y, Lu Y, Lin K, Hauser LA, Lynch DR, Napierala M, Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers Disease models & mechanisms10:1353-1369 2017
PubMed ID: 29125828
 
Halabi A, Fuselier KTB, Grabczyk E, GAA•TTC repeat expansion in human cells is mediated by mismatch repair complex MutL? and depends upon the endonuclease domain in MLH3 isoform one Nucleic acids research46:4022-4032 2017
PubMed ID: 29529236
 
Nabhan JF, Gooch RL, Piatnitski Chekler EL, Pierce B, Bulawa CE, Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin Scientific reports5:18251 2015
PubMed ID: 26671574
 
Richardson TE, Yu AE, Wen Y, Yang SH, Simpkins JW, Estrogen prevents oxidative damage to the mitochondria in Friedreich's ataxia skin fibroblasts PloS one7:e34600 2012
PubMed ID: 22509330
 
García-Giménez JL, Gimeno A, Gonzalez-Cabo P, Dasí F, Bolinches-Amorós A, Mollá B, Palau F, Pallardó FV, Differential expression of PGC-1a and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts PloS one6:e20666 2010
PubMed ID: 21687738
 
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
 
Li K, Besse EK, Ha D, Kovtunovych G, Rouault TA, Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia Human molecular genetics17:2265-73 2008
PubMed ID: 18424449
 
Gomez-Sebastian S, Gimenez-Cassina A, Diaz-Nido J, Lim F, Wade-Martins R, Infectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells Molecular therapy : the journal of the American Society of Gene Therapy15:248-54 2007
PubMed ID: 17235301
 
Jauslin ML, Wirth T, Meier T, Schoumacher F, A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy. Hum Mol Genet11(24):3055-63 2002
PubMed ID: 12417527
 
Young BR, Painter RB, Radioresistant DNA synthesis and human genetic diseases. Hum Genet82:113-7 1989
PubMed ID: 2722185
No data is available
Passage Frozen 8
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated