GM00288
Fibroblast from Skin, Arm
Description:
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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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Fibroblast from Skin, Arm
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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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spouse
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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 |
5.58 |
| Passage Frozen |
8 |
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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 |
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| Remarks |
Skin biopsy (right forearm) formerly GM00095; spouse is GM00305A (Huntington's disease fibroblast); 46,XY; 8% of cells show random chromosome loss |
| 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 |
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| Lee Y, Shivashankar GV, Analysis of transcriptional modules during human fibroblast ageing Scientific reports10:19086 2020 |
| PubMed ID: 33154459 |
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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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| Russanova VR, Hirai TH, Howard BH, Semirandom sampling to detect differentiation-related and age-related epigenome remodeling The journals of gerontology Series A, Biological sciences and medical sciences59:1221-33 2005 |
| PubMed ID: 15699521 |
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| Bennett CB, Rainbow AJ, Delayed expression of enhanced reactivation and decreased mutagenesis of UV-irradiated adenovirus in UV-irradiated ataxia telangiectasia fibroblasts. Mutagenesis3:389-95 1988 |
| PubMed ID: 3070272 |
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| Bennett CB, Rainbow AJ, Enhanced reactivation and mutagenesis of UV-irradiated adenovirus in normal human fibroblasts. Mutagenesis3:157-64 1988 |
| PubMed ID: 3288839 |
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| Jeeves WP, Rainbow AJ, An aberration in gamma-ray-enhanced reactivation of irradiated adenovirus in ataxia telangiectasia fibroblasts. Carcinogenesis7:381-7 1986 |
| PubMed ID: 3948323 |
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| Goldman D, Goldin LR, Rathnagiri P, O'Brien SJ, Egeland JA, Merril CR, Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees. Am J Hum Genet37:898-911 1985 |
| PubMed ID: 3863481 |
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| Chua CC, Geiman DE, Ladda RL, Detection of an Mr 200,000 glycoprotein in the culture medium of skin fibroblasts from patients with Huntington disease. Biochem Biophys Res Commun111:690-9 1983 |
| PubMed ID: 6220707 |
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| Sorbi S, Bird ED, Blass JP, Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain. Ann Neurol13:72-8 1983 |
| PubMed ID: 6219611 |
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| Sorbi S, Blass JP, Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts. Neurology32:555-8 1982 |
| PubMed ID: 7200213 |
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| Sorbi S, Blass JP, Spectrophotometric measurement of pyruvate dehydrogenase complex activity in cultured human fibroblasts. J Biochem Biophys Methods5:169-76 1981 |
| PubMed ID: 7299037 |
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| Baenziger NL, Dillender MJ, Majerus PW, Cultured human skin fibroblasts and arterial cells produce a labile platelet-inhibitory prostaglandin. Biochem Biophys Res Commun78:294-301 1977 |
| PubMed ID: 907679 |
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| Tan YH, Chou EL, Lundh N, Regulation of chromosome 21-directed anti-viral gene(s) as a consequence of age. Nature257:310-2 1975 |
| PubMed ID: 1161032 |
| Passage Frozen |
8 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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