HM04078
High Molecular Weight DNA from Fibroblast
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 |
| Estimated Quantity |
5 µg - 20 µg |
| Product Specifications |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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High Molecular Weight DNA from Fibroblast
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Race
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White
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Family Member
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2
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Relation to Proband
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brother
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Confirmation
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Molecular characterization after cell line submission to CCR
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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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| PDL at Freeze |
4.7 |
| Passage Frozen |
10 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase 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; 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. |
| Davide D, Federica C, Marco B, Elisa B, Silvia M, Giulia T, Federica D, Ottaviani D, Elena M, Luigi L, Elisa G, Elena Z, Antonella R, Milena B, Geppo S, Donatella C, Leonardo S, Paola C, Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain Cell death & disease14:805 2023 |
| PubMed ID: 38062036 |
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| Wang F, Calvo-Roitberg E, Rembetsy-Brown JM, Fang M, Sousa J, Kartje ZJ, Krishnamurthy PM, Lee J, Green MR, Pai AA, Watts JK, G-rich motifs within phosphorothioate-based antisense oligonucleotides (ASOs) drive activation of FXN expression through indirect effects Nucleic acids research50:12657-12673 2022 |
| PubMed ID: 36511872 |
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| Napierala JS, Rajapakshe K, Clark A, Chen YY, Huang S, Mesaros C, Xu P, Blair IA, Hauser LA, Farmer J, Lynch DR, Edwards DP, Coarfa C, Napierala M, Reverse phase protein array reveals correlation of retinoic acid metabolism with cardiomyopathy in Friedreich's ataxia Molecular & cellular proteomics : MCP50:100094 2021 |
| PubMed ID: 33991687 |
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| Wang D, Ho ES, Cotticelli MG, Xu P, Napierala JS, Hauser LA, Napierala M, Himes BE, Wilson RB, Lynch DR, Mesaros C, Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia Journal of lipid research63:100255 2021 |
| PubMed ID: 35850241 |
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| 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 |
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| 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 |
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| 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 |
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| Li Y, Polak U, Clark AD, Bhalla AD, Chen YY, Li J, Farmer J, Seyer L, Lynch D, Butler JS, Napierala M, Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example Biopreservation and biobanking14:324-9 2016 |
| PubMed ID: 27002638 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Young BR, Painter RB, Radioresistant DNA synthesis and human genetic diseases. Hum Genet82:113-7 1989 |
| PubMed ID: 2722185 |
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