Repository NIGMS Human Genetic Cell Repository
Subcollection Apparently Healthy Collection
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Race Caucasian
Family Member 1
Relation to Proband proband
Confirmation Karyotypic analysis and Case history
Species Homo sapiens
Common Name Human
Remarks Formerly GM01079; 46,XX; 4% of cells show random chromosome loss; 2% show random chromosomal aberrations
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
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.
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.
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).
Remark Formerly GM01079; 46,XX; 4% of cells show random chromosome loss; 2% show random chromosomal aberrations
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
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
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
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
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
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
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
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
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
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
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
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
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
Zhukovskaya N, Rydberg B, Karran P, Inactive O6-methylguanine-DNA methyltransferase in human cells. Nucleic Acids Res20:6081-90 1992
PubMed ID: 1461738
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
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
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
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
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
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
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
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
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
Willis, Structural alterations of DNA ligase I in Bloom syndrome. Proc Natl Acad Sci USA84:8016 (1987):217-9 1987
PubMed ID: 2910526
Protic-Sabljic M, Whyte DB, Kraemer KH, Hypersensitivity of xeroderma pigmentosum cells to dietary carcinogens. Mutat Res145:89-94 1985
PubMed ID: 3974607
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
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
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
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
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
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
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
Cohen, Absence of a clastogenic factor in ataxia telangiectasia lymphoblastoid cells. Cancer Genet Cytogenet2:327-334 1980
PubMed ID: 7464910
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
No data is available
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium