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 |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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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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| PDL at Freeze |
4.66 |
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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 and by Chromosome Analysis |
| |
| Remarks |
Clinically affected; limb and gait ataxia; scoliosis; proprioceptive sensory loss;negative family history; passage 10 at CCR |
| 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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| 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 : MCP24:100094 2021 |
| PubMed ID: 33991687 |
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| Cotticelli MG, Forestieri R, Xia S, Joyasawal S, Lee T, Xu K, Smith Iii AB, Huryn DM, Wilson RB, Identification of a Novel Oleic Acid Analog with Protective Effects in Multiple Cellular Models of Friedreich Ataxia ACS chemical neuroscience24:100094 2020 |
| PubMed ID: 32786299 |
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| Rodden LN, Chutake YK, Gilliam K, Lam C, Soragni E, Hauser L, Gilliam M, Wiley G, Anderson MP, Gottesfeld JM, Lynch DR, Bidichandani SI, Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia Human molecular genetics29:3818-3829 2020 |
| PubMed ID: 33432325 |
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| 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 |
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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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| Xia H, Cao Y, Dai X, Marelja Z, Zhou D, Mo R, Al-Mahdawi S, Pook MA, Leimkühler S, Rouault TA, Li K, Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia PloS one7:e47847 2012 |
| PubMed ID: 23082224 |
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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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| 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 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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