Description:
FRIEDREICH ATAXIA 1; FRDA
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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 |
| Alternate IDs |
GM18078 [FRIEDREICH ATAXIA 1; FRDA] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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Family Member
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3
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Relation to Proband
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brother
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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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| Remarks |
Clinically unaffected;has two FRDA alleles in the normal range of GAA trinucleotide repeats;brother of an affected individual (GM15850). |
| 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 |
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| Doni D, Rigoni G, Palumbo E, Baschiera E, Peruzzo R, De Rosa E, Caicci F, Passerini L, Bettio D, Russo A, Szabò I, Soriano ME, Salviati L, Costantini P, The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients FASEB journal : official publication of the Federation of American Societies for Experimental Biology35:e21362 2020 |
| PubMed ID: 33629768 |
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| Georges P, Boza-Moran MG, Gide J, Pêche GA, Forêt B, Bayot A, Rustin P, Peschanski M, Martinat C, Aubry L, Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide Scientific reports9:14568 2019 |
| PubMed ID: 31601825 |
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| Omar M.Khdour Indrajit Bandyopadhyay Sandipan Roy Chowdhury Nishant P.Visavadiya Sidney M. Hecht, Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a cellular model of Friedreich’s ataxia Bioorganic & Medicinal Chemistry26:3359-3369 2018 |
| PubMed ID: 29773347 |
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| Silva AM, Brown JM, Buckle VJ, Wade-Martins R, Lufino MM, Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells Human molecular genetics24:3457-71 2015 |
| PubMed ID: 25814655 |
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| Lufino MM, Silva AM, Németh AH, Alegre-Abarrategui J, Russell AJ, Wade-Martins R, A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds Human molecular genetics22:5173-87 2013 |
| PubMed ID: 23943791 |
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| Goldschmidt R, Arce PM, Khdour OM, Collin VC, Dey S, Jaruvangsanti J, Fash DM, Hecht SM, Effects of cytoprotective antioxidants on lymphocytes from representative mitochondrial neurodegenerative diseases Bioorganic & medicinal chemistry21:969-78 2012 |
| PubMed ID: 23313093 |
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| Guccini I, Serio D, Condò I, Rufini A, Tomassini B, Mangiola A, Maira G, Anile C, Fina D, Pallone F, Mongiardi MP, Levi A, Ventura N, Testi R, Malisan F, Frataxin participates to the hypoxia-induced response in tumors Cell death & disease2:e123 2011 |
| PubMed ID: 21368894 |
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| Haefeli RH, Erb M, Gemperli AC, Robay D, Courdier Fruh I, Anklin C, Dallmann R, Gueven N, NQO1-dependent redox cycling of idebenone: effects on cellular redox potential and energy levels PloS one6:e17963 2010 |
| PubMed ID: 21483849 |
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| Punga, T. and Buhler, M., Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation EMBO Mol Med2:120-129 2010 |
| PubMed ID: 20373285 |
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| Burnett R, Melander C, Puckett JW, Son LS, Wells RD, Dervan PB, Gottesfeld JM, DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAATTC repeats in Friedreich's ataxia Proceedings of the National Academy of Sciences of the United States of America103:11497-502 2006 |
| PubMed ID: 16857735 |
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| Condò I, Ventura N, Malisan F, Tomassini B, Testi R, A pool of extramitochondrial frataxin that promotes cell survival The Journal of biological chemistry281:16750-6 2006 |
| PubMed ID: 16608849 |
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