Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
| Class |
Disorders of the Nervous System |
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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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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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|
| PDL at Freeze |
7.23 |
| Passage Frozen |
6 |
| |
| 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 |
See GM07521 Lymphoid; |
| 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 : MCP:100094 2021 |
| PubMed ID: 33991687 |
| |
| 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 |
| |
| Even A, Morelli G, Turchetto S, Shilian M, Bail RL, Laguesse S, Krusy N, Brisker A, Brandis A, Inbar S, Chariot A, Saudou F, Dietrich P, Dragatsis I, Brone B, Broix L, Rigo JM, Weil M, Nguyen L, ATP-citrate lyase promotes axonal transport across species Nature communications12:5878 2020 |
| PubMed ID: 34620845 |
| |
| 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 |
| |
| Liu ML, Zang T, Zou Y, Chang JC, Gibson JR, Huber KM, Zhang CL, Small molecules enable neurogenin 2 to efficiently convert human fibroblasts into cholinergic neurons Nature communications4:2183 2013 |
| PubMed ID: 23873306 |
| |
| Seo H, Sonntag KC, Isacson O, Generalized brain and skin proteasome inhibition in Huntington's disease Annals of neurology56:319-28 2004 |
| PubMed ID: 15349858 |
| Passage Frozen |
6 |
| 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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