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NA00037 DNA from Fibroblast

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Female

Age:

18 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Apparently Healthy Collection
Alternate IDs GM17071 [APPARENTLY HEALTHY INDIVIDUAL]
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity PUERTO RICAN
Family Member 2
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XX[16]
Species Homo sapiens
Common Name Human
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

Characterizations

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PDL at Freeze 5.59
Passage Frozen 16
 
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
 

Phenotypic Data

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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

Publications

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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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
Greene AE, Manduka M, Coriell LL, SV40 virus transformation of genetic mutant cell cultures. Monogr Hum Genet9:248-52 1978
PubMed ID: 215903
 
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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 10309
GEO GEO Accession No: GSM415039

Images

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View pedigree 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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