Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Nervous System
Class Disorders with Trinucleotide Expansions
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Race Caucasian
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; spinal-cerebral degeneration with myocardiopathy; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 330 and 380 repeats; a brother (GM04078/GM04079) is similarly affected.
PDL at Freeze 5.06
Passage Frozen 4
 
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; spinal-cerebral degeneration with myocardiopathy; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 330 and 380 repeats; a brother (GM04078/GM04079) is similarly affected.
Li L, Shen X, Liu Z, Norrbom M, Prakash TP, O'Reilly D, Sharma VK, Damha MJ, Watts JK, Rigo F, Corey DR, Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat Nucleic acid therapeutics28:23-33 2019
PubMed ID: 29341839
 
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ, Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS American journal of human genetics105:151-165 2019
PubMed ID: 31230722
 
Cotticelli MG, Xia S, Kaur A, Lin D, Wang Y, Ruff E, Tobias JW, Wilson RB, Identification of p38 MAPK as a novel therapeutic target for Friedreich's ataxia Scientific reports8:5007 2017
PubMed ID: 29568068
 
Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M, Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data American journal of human genetics8:5007 2017
PubMed ID: 30503517
 
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
 
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
 
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 4
Split Ratio 1:3
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