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 |
GM17216 [APPARENTLY HEALTHY INDIVIDUAL] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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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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| 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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| DNA LIGASE I AND II |
Normal DNA ligase I & II enzyme activities (Willis et al. Proc Natl Acad Sci USA 84:8016-8020,1987). In 1989, Willis et al (Carcinogenesis 10:217-219) reported normal DNA ligase I activity with normal heat stability in extracts of this lymphoblast culture. |
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| MEX PHENOTYPES |
Sklar and Strauss (NATURE 289:417-420,1981) assigned this culture a mex+ phenotype based upon its ability to remove O6-MeG from alkylated DNA. |
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| SISTER CHROMATID EXCHANGE ANALYSIS |
Basal level of SCEs (4-8 per cell) in lymphoblast culture (Willis et al. Proc Natl Acad Sci USA 84:8016-8020,1987). |
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| Remarks |
Formerly GM01079; 46,XX; 4% of cells show random chromosome loss; 2% show random chromosomal aberrations |
| Goss GD, Spaans JN, Huntsman D, Asmis T, Andrews Wright NM, Duciaume M, Kaurah P, Miller RR, Banerji S, Sekhon HS, Gomes MM, Histologic and Genotypic Characterization of Lung Cancer in the Inuit Population of the Eastern Canadian Arctic Current oncology (Toronto, Ont)29:3171-3186 2022 |
| PubMed ID: 35621648 |
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| Kapetanaki MG, Guerrero-Santoro J, Bisi DC, Hsieh CL, Rapic-Otrin V, Levine AS, The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites Proceedings of the National Academy of Sciences of the United States of America103:2588-93 2006 |
| PubMed ID: 16473935 |
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| Harris SL, Gil G, Robins H, Hu W, Hirshfield K, Bond E, Bond G, Levine AJ, Detection of functional single-nucleotide polymorphisms that affect apoptosis Proceedings of the National Academy of Sciences of the United States of America102:16297-302 2005 |
| PubMed ID: 16260726 |
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| Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005 |
| PubMed ID: 16203772 |
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| Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl MC, Naumova AK, Sinnett D, Hudson TJ, A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics16(2):184-93 2004 |
| PubMed ID: 14583597 |
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| Desai SD, Zhang H, Rodriguez-Bauman A, Yang JM, Wu X, Gounder MK, Rubin EH, Liu
LF, Transcription-dependent degradation of topoisomerase I-DNA covalent complexes. Mol Cell Biol23(7):2341-50 2003 |
| PubMed ID: 12640119 |
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| Ho EL, Satoh MS, Repair of single-strand DNA interruptions by redundant pathways and its implication in cellular sensitivity to DNA-damaging agents. Nucleic Acids Res31(23):7032-40 2003 |
| PubMed ID: 14627836 |
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| Rapic-Otrin V, Navazza V, Nardo T, Botta E, McLenigan M, Bisi DC, Levine AS, Stefanini M, True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product. Hum Mol Genet12(13):1507-22 2003 |
| PubMed ID: 12812979 |
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| Rapic-Otrin V, McLenigan MP, Bisi DC, Gonzalez M, Levine AS, Sequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation. Nucleic Acids Res30(11):2588-98 2002 |
| PubMed ID: 12034848 |
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| Vispe S, Satoh MS, DNA repair patch mediated double-strand DNA break formation in human cells. J Biol Chem30(11):2588-98 2000 |
| PubMed ID: 10827190 |
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| Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, et al, The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell82:555-64 1995 |
| PubMed ID: 7664335 |
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| Vilpo JA, Vilpo LM, Szymkowski DE, O'Donovan A, Wood RD, An XPG DNA repair defect causing mutagen hypersensitivity in mouse leukemia L1210 cells. Mol Cell Biol15:290-7 1995 |
| PubMed ID: 7799936 |
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| Shivji MK, Eker AP, Wood RD, DNA repair defect in xeroderma pigmentosum group C and complementing factor from HeLa cells. J Biol Chem269:22749-57 1994 |
| PubMed ID: 8077226 |
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| Nicotera T, Thusu K, Dandona P, Elevated production of active oxygen in Bloom's syndrome cell lines. Cancer Res53:5104-7 1993 |
| PubMed ID: 8221645 |
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| Calsou P, Frit P, Salles B, Repair synthesis by human cell extracts in cisplatin-damaged DNA is preferentially determined by minor adducts. Nucleic Acids Res20:6363-8 1992 |
| PubMed ID: 1475197 |
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| Zhukovskaya N, Rydberg B, Karran P, Inactive O6-methylguanine-DNA methyltransferase in human cells. Nucleic Acids Res20:6081-90 1992 |
| PubMed ID: 1461738 |
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| Hansson J, Keyse SM, Lindahl T, Wood RD, DNA excision repair in cell extracts from human cell lines exhibiting hypersensitivity to DNA-damaging agents. Cancer Res51:3384-90 1991 |
| PubMed ID: 2054778 |
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| Robins P, Jones CJ, Biggerstaff M, Lindahl T, Wood RD, Complementation of DNA repair in xeroderma pigmentosum group A cell extracts by a protein with affinity for damaged DNA. EMBO J10:3913-21 1991 |
| PubMed ID: 1935910 |
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| Hansson J, Grossman L, Lindahl T, Wood RD, Complementation of the xeroderma pigmentosum DNA repair synthesis defect with Escherichia coli UvrABC proteins in a cell-free system. Nucleic Acids Res18:35-40 1990 |
| PubMed ID: 2408009 |
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| Karran P, Stephenson C, Macpherson P, Cairns-Smith S, Priestley A, Coregulation of the human O6-methylguanine-DNA methyltransferase with two unrelated genes that are closely linked. Cancer Res50:1532-7 1990 |
| PubMed ID: 2137369 |
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| Rydberg B, Spurr N, Karran P, cDNA cloning and chromosomal assignment of the human O6-methylguanine- DNA methyltransferase. cDNA expression in Escherichia coli and gene expression in human cells. J Biol Chem265:9563-9 1990 |
| PubMed ID: 2188979 |
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| Takai S, Price FM, Sanford KK, Tarone RE, Parshad R, Persistence of chromatid damage after G2 phase X-irradiation in lymphoblastoid cells from Gardner's syndrome. Carcinogenesis11:1425-8 1990 |
| PubMed ID: 2387030 |
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| Tomkinson AE, Lasko DD, Daly G, Lindahl T, Mammalian DNA ligases. Catalytic domain and size of DNA ligase I. J Biol Chem265:12611-7 1990 |
| PubMed ID: 1695631 |
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| Willis AE, Spurr NK, Lindahl T, Concomitant reversion of the characteristic phenotypic properties of a cell line of Bloom's syndrome origin. Carcinogenesis10:217-9 1989 |
| PubMed ID: 2910526 |
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| Willis, Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci USA84:8016 (1987):217-9 1987 |
| PubMed ID: 2910526 |
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| Protic-Sabljic M, Whyte DB, Kraemer KH, Hypersensitivity of xeroderma pigmentosum cells to dietary carcinogens. Mutat Res145:89-94 1985 |
| PubMed ID: 3974607 |
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| Cohen MM, Simpson SJ, Increased clastogenicity and decreased inhibition of DNA synthesis by neocarzinostatin and tallysomycin in ataxia telangiectasia lymphoid cells. Mutat Res112:119-28 1983 |
| PubMed ID: 6188042 |
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| Harris AL, Karran P, Lindahl T, O6-Methylguanine-DNA methyltransferase of human lymphoid cells: structural and kinetic properties and absence in repair-deficient cells. Cancer Res43:3247-52 1983 |
| PubMed ID: 6342762 |
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| Kraemer KH, Soares N, Waters HL, Bustin M, Effect of X-radiation on DNA and histone synthesis in ataxia telangiectasia and normal lymphoblastoid cells. Mutat Res112:359-67 1983 |
| PubMed ID: 6656798 |
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| Cohen MM, Fruchtman CE, Simpson SJ, Martin AO, The cytogenetic response of Fanconi's anemia lymphoblastoid cell lines to various clastogens. Cytogenet Cell Genet34:230-40 1982 |
| PubMed ID: 6183057 |
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| Cohen MM, Simpson SJ, Pazos L, Specificity of bleomycin-induced cytotoxic effects on ataxia telangiectasia lymphoid cell lines. Cancer Res41:1817-23 1981 |
| PubMed ID: 6163529 |
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| Littlefield LG, Colyer SP, Joiner EE, DuFrain RJ, Frome E, Cohen MM, Chromosomal radiation sensitivity in ataxia telangiectasia long-term lymphoblastoid cell lines. Cytogenet Cell Genet31:203-13 1981 |
| PubMed ID: 6978798 |
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| Sklar R, Strauss B, Removal of O6-methylguanine from DNA of normal and xeroderma pigmentosum-derived lymphoblastoid lines. Nature289:417-20 1981 |
| PubMed ID: 7464910 |
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| Cohen, Absence of a clastogenic factor in ataxia telangiectasia lymphoblastoid cells. Cancer Genet Cytogenet2:327-334 1980 |
| PubMed ID: 7464910 |
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| Kraemer KH, Waters HL, Buchanan JK, Survival of human lymphoblastoid cells after DNA damage measured by growth in microtiter wells. Mutat Res72:285-94 1980 |
| PubMed ID: 6160397 |
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