NA00037
DNA from Fibroblast
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 |
| Alternate IDs |
GM17071 [APPARENTLY HEALTHY INDIVIDUAL] |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from Fibroblast
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Race
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White
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Ethnicity
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PUERTO RICAN
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Family Member
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2
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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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ISCN
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46,XX[16]
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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 |
5.59 |
| Passage Frozen |
16 |
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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; Puerto Rican; daughter is GM00041; see GM00637 (SV40 Transformed GM00037); 46,XX; 7% of cells show random chromosome loss, 7% show random chromosome deletion, and 7% show random chromosome exchange |
| Crespo NE, Torres-Bracero A, Renta JY, Desnick RJ, Cadilla CL, Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells International journal of environmental research and public health18: 2020 |
| PubMed ID: 33669496 |
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| Carmona-Rivera C, Simeonov DR, Cardillo ND, Gahl WA, Cadilla CL, A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3) Biochimica et biophysica acta1833:468-78 2012 |
| PubMed ID: 23103514 |
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| Ames D, Murphy N, Helentjaris T, Sun N, Chandler VL, Comparative analyses of human single- and multi-locus tandem repeats Genetics1833:468-78 2008 |
| PubMed ID: 18562644 |
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| Pal A, Severin F, Lommer B, Shevchenko A, Zerial M, Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease The Journal of cell biology172:605-18 2006 |
| PubMed ID: 16476778 |
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| Bao YP, Huber M, Wei TF, Marla SS, Storhoff JJ, Müller UR, SNP identification in unamplified human genomic DNA with gold nanoparticle probes Nucleic acids research33:e15 2005 |
| PubMed ID: 15659576 |
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| Rao VA, Fan AM, Meng L, Doe CF, North PS, Hickson ID, Pommier Y, Phosphorylation of BLM, dissociation from topoisomerase IIIalpha, and colocalization with gamma-H2AX after topoisomerase I-induced replication damage Molecular and cellular biology25:8925-37 2005 |
| PubMed ID: 16199871 |
| |
| Chen BK, Overgaard MT, Bale LK, Resch ZT, Christiansen M, Oxvig C, Conover CA, Molecular regulation of the IGF-binding protein-4 protease system in human fibroblasts: identification of a novel inducible inhibitor. Endocrinology143(4):1199-205 2002 |
| PubMed ID: 11897673 |
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| Dell'Angelica EC, Aguilar RC, Wolins N, Hazelwood S, Gahl WA, Bonifacino JS, Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene. J Biol Chem275:1300-6 2000 |
| PubMed ID: 10625677 |
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| Limoli CL, Giedzinski E, Morgan WF, Cleaver JE, Inaugural Article: Polymerase eta deficiency in the xeroderma pigmentosum variant uncovers an overlap between the S phase checkpoint and double-strand break repair. Proc Natl Acad Sci U S A97:7939-7946 2000 |
| PubMed ID: 10859352 |
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| Cleaver JE, Afzal V, Feeney L, McDowell M, Sadinski W, Volpe JP, Busch DB,
Coleman DM, Ziffer DW, Yu Y, Nagasawa H, Little JB, Increased ultraviolet sensitivity and chromosomal instability related to P53
function in the xeroderma pigmentosum variant. Cancer Res59(5):1102-8 1999 |
| PubMed ID: 10070969 |
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| Seavey SE, Holubar M, Saucedo LJ, Perry ME, The E7 oncoprotein of human papillomavirus type 16 stabilizes p53 through a mechanism independent of p19(ARF). J Virol73:7590-8 1999 |
| PubMed ID: 10438849 |
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| Ali RB, Teo AK, Oh HK, Chuang LS, Ayi TC, Li BF, Implication of localization of human DNA repair enzyme O6-methylguanine-DNA methyltransferase at active transcription sites in transcription-repair coupling of the mutagenic O6-methylguanine lesion. Mol Cell Biol18:1660-9 1998 |
| PubMed ID: 9488483 |
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| Rapic Otrin V, Kuraoka I, Nardo T, McLenigan M, Eker AP, Stefanini M, Levine
AS, Wood RD, Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A. Mol Cell Biol18(6):3182-90 1998 |
| PubMed ID: 9584159 |
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| Saito H, Papaconstantinou J, Sato H, Goldstein S, Regulation of a novel gene encoding a lysyl oxidase-related protein in cellular adhesion and senescence. J Biol Chem272:8157-60 1997 |
| PubMed ID: 9079631 |
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| Fowlkes JL, Enghild JJ, Suzuki K, Nagase H, Matrix metalloproteinases degrade insulin-like growth factor-binding protein-3 in dermal fibroblast cultures. J Biol Chem269:25742-6 1994 |
| PubMed ID: 7523391 |
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| Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC, Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Hum Mol Genet3:1783-8 1994 |
| PubMed ID: 7849702 |
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| Saito H, Grompe M, Neeley TL, Jakobs PM, Moses RE, Fanconi anemia cells have a normal gene structure for topoisomerase I. Hum Genet93:583-6 1994 |
| PubMed ID: 8168839 |
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| Huang HM, Toral-Barza L, Thaler H, Tofel-Grehl B, Gibson GE, Inositol phosphates and intracellular calcium after bradykinin stimulation in fibroblasts from young, normal aged and Alzheimer donors. Neurobiol Aging12:469-73 1991 |
| PubMed ID: 1770982 |
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| Torroni A, Stepien G, Hodge JA, Wallace DC, Neoplastic transformation is associated with coordinate induction of nuclear and cytoplasmic oxidative phosphorylation genes. J Biol Chem265:20589-93 1990 |
| PubMed ID: 2173714 |
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| McNearney T, Ballard L, Seya T, Atkinson JP, Membrane cofactor protein of complement is present on human fibroblast, epithelial, and endothelial cells. J Clin Invest84:538-45 1989 |
| PubMed ID: 2474570 |
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| Bunn CL, Baron JI, Mitchell D, Inherent resistance of HeLa cell derivatives to paromomycin. In Vitro Cell Dev Biol22:381-6 1986 |
| PubMed ID: 3015861 |
| |
| Stanisz J, Wice BM, Kennell DE, Serum factors that stimulate fatty acid oxidation: physiological specificity. J Cell Physiol126:141-6 1986 |
| PubMed ID: 3944194 |
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| Wice BM, Reitzer LJ, Kennell D, The continuous growth of vertebrate cells in the absence of sugar. J Biol Chem256:7812-9 1981 |
| PubMed ID: 6790526 |
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| Harley CB, Pollard JW, Chamberlain JW, Stanners CP, Goldstein S, Protein synthetic errors do not increase during aging of cultured human fibroblasts. Proc Natl Acad Sci U S A77:1885-9 1980 |
| PubMed ID: 6246512 |
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| Krepinsky AB, Rainbow AJ, Heddle JA, Studies on the ultraviolet light sensitivity of Bloom's syndrome fibroblasts. Mutat Res69:357-68 1980 |
| PubMed ID: 7360151 |
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| Vincent RA Jr, Fink AJ, Huang PC, Unscheduled DNA synthesis in cultured ataxia telangiectasia fibroblast- like cells. Mutat Res72:245-9 1980 |
| PubMed ID: 7442694 |
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| McCormick PJ, Keys BJ, Pucci C, Millis AJ, Human fibroblast-conditioned medium contains a 100K dalton glucose- regulated cell surface protein. Cell18:173-82 1979 |
| PubMed ID: 509521 |
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| Chen YT, Worthy TE, Krooth RS, Evidence for a striking increase in acetylcholinesterase activity in cultured human fibroblasts which are trisomic for chromosome two. Somatic Cell Genet4:265-98 1978 |
| PubMed ID: 694721 |
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| Greene AE, Manduka M, Coriell LL, SV40 virus transformation of genetic mutant cell cultures. Monogr Hum Genet9:248-52 1978 |
| PubMed ID: 215903 |
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| Owerbach D, Doyle D, Shows TB, Genetics of the large, external, transformation-sensitive (LETS) protein: assignment of a gene coding for expression of LETS to human chromosome 8. Proc Natl Acad Sci U S A75:5640-4 1978 |
| PubMed ID: 214793 |
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| Yatscoff RW, Goldstein S, Freeman KB, Conservation of genes coding for proteins synthesized in human mitochondria. Somatic Cell Genet4:633-45 1978 |
| PubMed ID: 741350 |
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| Oshima RG, Pellett OL, Robb JA, Schneider JA, Transformation of human cystinotic fibroblasts by SV40: characteristics of transformed cells with limited and unlimited growth potential. J Cell Physiol93:129-36 1977 |
| PubMed ID: 198418 |
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| Tan YH, Greene AE, Subregional localization of the gene(s) governing the human interferon induced antiviral state in man. J Gen Virol32:153-5 1976 |
| PubMed ID: 182912 |
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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 |
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