GM00409
Fibroblast from Skin, Unspecified
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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Unspecified
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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, Unspecified
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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 |
5.3 |
| Passage Frozen |
3 |
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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 |
46,XY; skin biopsy; 4% of cells show random chromosome gain - 47,XY,+7; passage 10 at CCR |
| Lehtonen J, Hakonen AH, Hassinen A, Lurås SI, Kaustio M, Glumoff V, Hinrichsen F, Li W, Sulonen AM, Wickman S, Almusa H, Polso M, Palomäki M, Kivirikko S, Avela K, Heiskanen K, Pietiäinen V, Aittomäki K, Saarela J, Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction Human molecular genetics34:1294-1312 2025 |
| PubMed ID: 40401444 |
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| Cencelli G, Pacini L, De Luca A, Messia I, Gentile A, Kang Y, Nobile V, Tabolacci E, Jin P, Farace MG, Bagni C, Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals Cells12:1294-1312 2023 |
| PubMed ID: 36899894 |
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| Dao L, You Z, Lu L, Xu T, Sarkar AK, Zhu H, Liu M, Calandrelli R, Yoshida G, Lin P, Miao Y, Mierke S, Kalva S, Zhu H, Gu M, Vadivelu S, Zhong S, Huang LF, Guo Z, Modeling blood-brain barrier formation and cerebral cavernous malformations in human PSC-derived organoids Cell stem cell31:818-833.e11 2023 |
| PubMed ID: 38754427 |
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| Shomroni O, Sitte M, Schmidt J, Parbin S, Ludewig F, Yigit G, Zelarayan LC, Streckfuss-Bömeke K, Wollnik B, Salinas G, A novel single-cell RNA-sequencing approach and its applicability connecting genotype to phenotype in ageing disease Scientific reports12:4091 2022 |
| PubMed ID: 35260714 |
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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 Biology19:4091 2018 |
| PubMed ID: 30567591 |
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| Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER, Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR Neuromuscular disorders : NMD27:439-446 2016 |
| PubMed ID: 28284873 |
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| Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME, SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR Molecular genetics & genomic medicine3:248-57 2015 |
| PubMed ID: 26247043 |
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| Wood PL, Smith T, Pelzer L, Goodenowe DB, Targeted metabolomic analyses of cellular models of pelizaeus-merzbacher disease reveal plasmalogen and myo-inositol solute carrier dysfunction Lipids in health and disease10:102 2011 |
| PubMed ID: 21682894 |
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| Parshad RP, Sanford KK, Price FM, Melnick LK, Nee LE, Schapiro MB, Tarone RE, Robbins JH, Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture. Proc Natl Acad Sci U S A93:5146-50 1996 |
| PubMed ID: 8643543 |
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| Sanford KK, Parshad R, Price FM, Tarone RE, Benedict WF, Cytogenetic responses to G2 phase x-irradiation of cells from retinoblastoma patients. Cancer Genet Cytogenet88:43-8 1996 |
| PubMed ID: 8630978 |
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| Hotamisligil GS, Breakefield XO, Human monoamine oxidase A gene determines levels of enzyme activity. Am J Hum Genet49:383-92 1991 |
| PubMed ID: 1678250 |
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| Butler JD, Key JD, Hughes BF, Tietze F, Raiford DS, Reed GF, Brannon PM, Spielberg SP, Schulman JD, Glutathione metabolism in normal and cystinotic fibroblasts. Exp Cell Res172:158-67 1987 |
| PubMed ID: 2888673 |
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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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| Kurz JB, Perkins JP, Cystic fibrosis fibroblasts respond normally to isoproterenol. Pediatr Res15:1328-33 1981 |
| PubMed ID: 6170925 |
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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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| Maroun LE, Interferon effect on ribosomal ribonucleic acid related to chromosome 21 ploidy. Biochem J179:221-5 1979 |
| PubMed ID: 475756 |
| Passage Frozen |
3 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
Commercially-treated plastic |
| Supplement |
- |
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