GM00495
Fibroblast from Skin, Buttock
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 |
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Biopsy Source
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Buttock
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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, Buttock
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Family Member
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2
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Relation to Proband
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parent
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Confirmation
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Karyotypic analysis and 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 |
6.61 |
| Passage Frozen |
10 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Remarks |
46,XY; formerly GM00104; skin biopsy (buttock); clinically normal parent of a child with low growth hormone level; 2% of cells show random chromosome gain |
| Oh YM, Lee SW, Kim WK, Chen S, Church VA, Cates K, Li T, Zhang B, Dolle RE, Dahiya S, Pak SC, Silverman GA, Perlmutter DH, Yoo AS, Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy Nature neuroscience25:1420-1433 2022 |
| PubMed ID: 36303071 |
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| Pepponi R, De Simone R, De Nuccio C, Visentin S, Matteucci A, Bernardo A, Popoli P, Ferrante A, Repurposing Dipyridamole in Niemann Pick Type C Disease: A Proof of Concept Study International journal of molecular sciences23:1420-1433 2022 |
| PubMed ID: 35408815 |
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| Fleischer JG, Schulte R, Tsai HH, Tyagi S, Ibarra A, Shokhirev MN, Huang L, Hetzer MW, Navlakha S, Predicting age from the transcriptome of human dermal fibroblasts Genome Biology19:1420-1433 2018 |
| PubMed ID: 30567591 |
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| Visentin S, De Nuccio C, Bernardo A, Pepponi R, Ferrante A, Minghetti L, Popoli P, The stimulation of adenosine A2A receptors ameliorates the pathological phenotype of fibroblasts from Niemann-Pick type C patients The Journal of neuroscience : the official journal of the Society for Neuroscience33:15388-93 2013 |
| PubMed ID: 24068806 |
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| Liu G, Chen X, DNA polymerase eta, the product of the xeroderma pigmentosum variant gene and a target of p53, modulates the DNA damage checkpoint and p53 activation Molecular and cellular biology26:1398-413 2006 |
| PubMed ID: 16449651 |
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| Little JB, Nichols WW, Troilo P, Nagasawa H, Strong LC, Radiation sensitivity of cell strains from families with genetic disorders predisposing to radiation-induced cancer. Cancer Res49:4705-14 1989 |
| PubMed ID: 2758405 |
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| Little JB, Nove J, Dahlberg WK, Troilo P, Nichols WW, Strong LC, Normal cytotoxic response of skin fibroblasts from patients with Li- Fraumeni familial cancer syndrome to DNA-damaging agents in vitro. Cancer Res47:4229-34 1987 |
| PubMed ID: 3111682 |
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| Wrogemann, Searching for the gene product(s) responsible for Duchenne muscular dystrophy. Ital J Neurol SciSuppl 3:51 (1984):4229-34 1984 |
| PubMed ID: 3111682 |
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| Davis MH, Pato CN, Grinvalsky H, Gruenstein E, Identification of a biochemical difference between male and female human fibroblasts: implications for the expression of Duchenne muscular dystrophy. Neurology32:951-7 1982 |
| PubMed ID: 7202167 |
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| Barrett SF, Tarone RE, Moshell AN, Ganges MB, Robbins JH, The post-UV colony-forming ability of normal fibroblast strains and of the xeroderma pigmentosum group G strain. J Invest Dermatol76:59-62 1981 |
| PubMed ID: 7462668 |
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| Hall JD, Transformation of ultraviolet-irradiated human fibroblasts by simian virus 40 is enhanced by cellular DNA repair functions. Biochim Biophys Acta652:314-23 1981 |
| PubMed ID: 6260192 |
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| Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981 |
| PubMed ID: 6170925 |
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| Doniger J, Barrett SF, Robbins JH, Human fibroblast strain with normal survival but abnormal postreplication repair after ultraviolet light irradiation. Cancer Res40:2736-9 1980 |
| PubMed ID: 7388823 |
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| Kurz JB, Perkins JP, Buchwald M, Killing of fibroblasts by dexamethasone or dibutyryl adenosine 3',5'- monophosphate is not a valid test for cystic fibrosis. Science206:1317-9 1979 |
| PubMed ID: 229552 |
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| Pena SD, Quilliam NM, Hamerton JL, Wrogemann K, Searching for molecular abnormalities in genetic diseases by the use of a double labeling technique. II. Deficiency of a basic protein in fibroblasts of patients with Pompe's disease. Pediatr Res12:894-8 1978 |
| PubMed ID: 362358 |
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| Pena SD, Vust A, Tucker D, Hamerton JL, Wrogemann K, Biochemical investigations in cultured skin fibroblasts from patients with Duchenne muscular dystrophy. Clin Genet14:50-4 1978 |
| PubMed ID: 679522 |
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| Rosenthal MD, Geyer RP, Release of phospholipid acyl groups from fetal human fibroblasts. Biochem Biophys Res Commun74:1456-62 1977 |
| PubMed ID: 843371 |
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| Rosenthal MD, Geyer RP, Phospholipid acyl group stability in cultured fibroblasts. Differences between human cell lines of fetal and adult origin. Biochim Biophys Acta441:465-76 1976 |
| PubMed ID: 974094 |
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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 |
| Cumulative PDL at Freeze |
6.61 |
| Passage Frozen |
10 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
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