GM16223
LCL from B-Lymphocyte
Description:
FRIEDREICH ATAXIA 1; FRDA
FRATAXIN; FXN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| 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. |
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| 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 19 years of age; ataxia; mitral valve prolapse; areflexia; sensory loss; dysarthria; scoliosis; brother and cousin are also affected; homozygous for the GAA expansion in the frataxin gene with alleles of approximately 400 and 630 repeats. |
| Mishra P, Sivakumar A, Johnson A, Pernaci C, Warden AS, El-Hachem LR, Hansen E, Badell-Grau RA, Khare V, Ramirez G, Gillette S, Solis AB, Guo P, Coufal N, Cherqui S, Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich's ataxia iPSC-derived neurons Frontiers in pharmacology15:1323491 2024 |
| PubMed ID: 38420191 |
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| Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF, Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers Molecular genetics and metabolism94:491-7 2008 |
| PubMed ID: 18485778 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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