GM16220
LCL from B-Lymphocyte
Description:
FRIEDREICH ATAXIA 1; FRDA
FRATAXIN; FXN
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Disorders of the Nervous System |
Class |
Disorders with Trinucleotide Expansions |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase 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. |
Remarks |
Clinically affected; onset at 16 years of age; ataxia; areflexia; sensory loss; nystagmus; two distant cousins also affected; homozygous for the GAA expansion in the frataxin gene with both alleles of approximately 460 repeats. |
Jama M, Margraf RL, Yu P, Reading NS, Bayrak-Toydemir P, A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia The Journal of molecular diagnostics : JMD24:915-923 2021 |
PubMed ID: 35595154 |
|
Jasoliya M, Sacca F, Sahdeo S, Chedin F, Pane C, Brescia Morra V, Filla A, Pook M, Cortopassi G, Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia PloS one14:e0217776 2018 |
PubMed ID: 31158268 |
|
Sahdeo S, Scott BD, McMackin MZ, Jasoliya M, Brown B, Wulff H, Perlman SL, Pook MA, Cortopassi GA, Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. Hum Mol Genet.23(25):6848-62 2014 |
PubMed ID: 25113747 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
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