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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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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 |
4.88 |
| Passage Frozen |
4 |
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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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| Remark |
46,XY; 6% of cells show random chromosome loss |
| Palminha NM, Dos Santos Souza C, Griffin J, Liao C, Ferraiuolo L, El-Khamisy SF, Defective repair of topoisomerase I induced chromosomal damage in Huntington's disease Cellular and molecular life sciences : CMLS79:160 2021 |
| PubMed ID: 35224690 |
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| Gao D, Morini E, Salani M, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA, A deep learning approach to identify gene targets of a therapeutic for human splicing disorders Nature communications12:3332 2020 |
| PubMed ID: 34099697 |
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| Ihry RJ1, Worringer KA1, Salick MR1, Frias E2, Ho D1, Theriault K1, Kommineni S1, Chen J3, Sondey M4, Ye C5, Randhawa R1, Kulkarni T1, Yang Z2, McAllister G2, Russ C2, Reece-Hoyes J2, Forrester W2, Hoffman GR2, Dolmetsch R1, Kaykas A, p53 inhibits CRISPR-Cas9 engineering in human pluripotent stem cells Nature Medicine24:939-946 2018 |
| PubMed ID: 29892062 |
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| Ihry RJ, Salick MR, Ho DJ, Sondey M, Kommineni S, Paula S, Raymond J, Henry B, Frias E, Wang Q, Worringer KA, Ye C, Russ C, Reece-Hoyes JS, Altshuler RC, Randhawa R, Yang Z, McAllister G, Hoffman GR, Dolmetsch R, Kaykas A, Genome-Scale CRISPR Screens Identify Human Pluripotency-Specific Genes Cell reports27:616-630.e6 2018 |
| PubMed ID: 30970262 |
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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 Biology19:616-630.e6 2018 |
| PubMed ID: 30567591 |
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| Yealland G, Battaglia G, Bandmann O, Mortiboys H, Rescue of mitochondrial function in parkin-mutant Fibroblasts using drug loaded PMPC-PDPA polymersomes and tubular polymersomes Neuroscience letters19:616-630.e6 2016 |
| PubMed ID: 27412236 |
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| Labbé A, Lafleur VN, Patten DA, Robitaille GA, Garand C, Lamalice L, Lebel M, Richard DE, The Werner syndrome gene product (WRN): a repressor of hypoxia-inducible factor-1 activity Experimental cell research19:616-630.e6 2011 |
| PubMed ID: 22659133 |
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| Haefeli RH, Erb M, Gemperli AC, Robay D, Courdier Fruh I, Anklin C, Dallmann R, Gueven N, NQO1-dependent redox cycling of idebenone: effects on cellular redox potential and energy levels PloS one6:e17963 2010 |
| PubMed ID: 21483849 |
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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 X, Standley C, Sapp E, Valencia A, Qin ZH, Kegel KB, Yoder J, Comer-Tierney LA, Esteves M, Chase K, Alexander J, Masso N, Sobin L, Bellve K, Tuft R, Lifshitz L, Fogarty K, Aronin N, DiFiglia M, Mutant huntingtin impairs vesicle formation from recycling endosomes by interfering with Rab11 activity Molecular and cellular biology29:6106-16 2009 |
| PubMed ID: 19752198 |
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| Kumamoto K, Spillare EA, Fujita K, Horikawa I, Yamashita T, Appella E, Nagashima M, Takenoshita S, Yokota J, Harris CC, Nutlin-3a activates p53 to both down-regulate inhibitor of growth 2 and up-regulate mir-34a, mir-34b, and mir-34c expression, and induce senescence Cancer research68:3193-203 2008 |
| PubMed ID: 18451145 |
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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 |
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| Wilson PF, Nagasawa H, Warner CL, Fitzek MM, Little JB, Bedford JS, Radiation Sensitivity of Primary Fibroblasts from Hereditary Retinoblastoma Family Members and Some Apparently Normal Controls: Colony Formation Ability during Continuous Low-Dose-Rate Gamma Irradiation Radiation research169:483-94 2008 |
| PubMed ID: 18439048 |
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| Lin Z, Fontaine J, Watchko JF, Coexpression of gene polymorphisms involved in bilirubin production and metabolism Pediatrics122:e156-62 2008 |
| PubMed ID: 18558634 |
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| Innes CL, Heinloth AN, Flores KG, Sieber SO, Deming PB, Bushel PR, Kaufmann WK, Paules RS, ATM requirement in gene expression responses to ionizing radiation in human lymphoblasts and fibroblasts. Mol Cancer Res4(3):197-207 2006 |
| PubMed ID: 16547157 |
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| Sengupta S, Shimamoto A, Koshiji M, Pedeux R, Rusin M, Spillare EA, Shen JC, Huang LE, Lindor NM, Furuichi Y, Harris CC, Tumor suppressor p53 represses transcription of RECQ4 helicase. Oncogene24(10):1738-48 2005 |
| PubMed ID: 15674334 |
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| Jauslin ML, Wirth T, Meier T, Schoumacher F, A cellular model for Friedreich Ataxia reveals small-molecule glutathione
peroxidase mimetics as novel treatment strategy. Hum Mol Genet11(24):3055-63 2002 |
| PubMed ID: 12417527 |
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| Huo TI, Wang XW, Forgues M, Wu CG, Spillare EA, Giannini C, Brechot C, Harris CC, Hepatitis B virus X mutants derived from human hepatocellular carcinoma retain the ability to abrogate p53-induced apoptosis Oncogene20:3620-8 2001 |
| PubMed ID: 11439325 |
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| Blander G, Zalle N, Leal JF, Bar-Or RL, Yu CE, Oren M, The Werner syndrome protein contributes to induction of p53 by DNA damage. FASEB J14(14):2138-40 2000 |
| PubMed ID: 11023999 |
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| Spillare EA, Robles AI, Wang XW, Shen JC, Yu CE, Schellenberg GD, Harris CC, p53-mediated apoptosis is attenuated in Werner syndrome cells. Genes Dev13:1355-60 1999 |
| PubMed ID: 10364153 |
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| Circolo A, Pierce GF, Katz Y, Strunk RC, Antiinflammatory effects of polypeptide growth factors. Platelet- derived growth factor, epidermal growth factor, and fibroblast growth factor inhibit the cytokine-induced expression of the alternative complement pathway activator factor B in human fibroblasts. J Biol Chem265:5066-71 1990 |
| PubMed ID: 1690734 |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
| Serum |
15% fetal bovine serum Not inactivated |
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