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 |
GM17203 [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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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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ISCN
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46,XY
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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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| Remarks |
46,XY; 8% of cells show random chromosome loss and 4% show random chromosome aberrations |
| Gutowska-Ding MW, Deans ZC, Roos C, Matilainen J, Khawaja F, Brügger K, Ahn JW, Boustred C, Patton SJ, One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants European journal of human genetics : EJHG: 2019 |
| PubMed ID: 31570784 |
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| Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, Dimauro S, Paw BH., Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am J Hum Genet.93(5):906-14 2013 |
| PubMed ID: 24119684 |
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| Gong Y, Beitelshees AL, Wessel J, Langaee TY, Schork NJ, Johnson JA, Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit Pharmacogenetics and genomics17:267-75 2007 |
| PubMed ID: 17496725 |
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| Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT., Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes. Clin Chem51(11):2156-9 2005 |
| PubMed ID: 16244288 |
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| Helt CE, Cliby WA, Keng PC, Bambara RA, O'Reilly MA, Ataxia telangiectasia mutated (ATM) and ATM and Rad3-related protein exhibit selective target specificities in response to different forms of DNA damage J Biol Chem280(2):1186-92 2005 |
| PubMed ID: 15533933 |
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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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| Tu LC, Matsui SI, Beerman TA, Hedamycin, a DNA alkylator, induces (gamma)H2AX and chromosome aberrations: involvement of phosphatidylinositol 3-kinase-related kinases and DNA replication fork movement Molecular cancer therapeutics4:1175-85 2005 |
| PubMed ID: 16093433 |
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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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| Schawalder J, Paric E, Neff NF, Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase. BMC Cell Biol4:15:184-93 2003 |
| PubMed ID: 14577841 |
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| Hammond EM, Denko NC, Dorie MJ, Abraham RT, Giaccia AJ, Hypoxia links ATR and p53 through replication arrest. Mol Cell Biol22(6):1834-43 2002 |
| PubMed ID: 11865061 |
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| Yang C, Maiguel DA, Carrier F, Identification of nucleolin and nucleophosmin as genotoxic stress-responsive RNA-binding proteins. Nucleic Acids Res30(10):2251-60 2002 |
| PubMed ID: 12000845 |
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| Brown KD, Lataxes TA, Shangary S, Mannino JL, Giardina JF, Chen J, Baskaran R, Ionizing radiation exposure results in up-regulation of Ku70 via a p53/ataxia-telangiectasia-mutated protein-dependent mechanism. J Biol Chem275:6651-6 2000 |
| PubMed ID: 10692474 |
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| Narayan A, Tuck-Muller C, Weissbecker K, Smeets D, Ehrlich M, Hypersensitivity to radiation-induced non-apoptotic and apoptotic death in cell lines from patients with the ICF chromosome instability syndrome Mutation research456:1-15 2000 |
| PubMed ID: 11087891 |
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| Tuck-Muller CM, Narayan A, Tsien F, Smeets DF, Sawyer J, Fiala ES, Sohn OS, Ehrlich M, DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients Cytogenetics and cell genetics89:121-8 2000 |
| PubMed ID: 10894953 |
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| Khaw LE, Bohm GA, Metcalfe S, Staunton J, Leadlay PF, Mutational biosynthesis of novel rapamycins by a strain of Streptomyces hygroscopicus NRRL 5491 disrupted in rapL, encoding a putative lysine cyclodeaminase. J Bacteriol180:809-14 1998 |
| PubMed ID: 9473033 |
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| Waldmann TA, Misiti J, Nelson DL, Kraemer KH, Ataxia-telangiectasis: a multisystem hereditary disease with immunodeficiency, impaired organ maturation, x-ray hypersensitivity, and a high incidence of neoplasia [clinical conference]. Ann Intern Med99:367-79 1983 |
| PubMed ID: 6193747 |
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| Kohn PH, Kraemer KH, Buchanan JK, Influence of ataxia telangiectasia gene dosage on bleomycin-induced chromosome breakage and inhibition of replication in human lymphoblastoid cell lines. Exp Cell Res137:387-95 1982 |
| PubMed ID: 6173245 |
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| Moshell AN, Tarone RE, Newfield SA, Andrews AD, Robbins JH, A simple and rapid method for evaluating the survival of xeroderma pigmentosum lymphoid lines after irradiation with ultraviolet light. In Vitro17:299-307 1981 |
| PubMed ID: 6263790 |
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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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