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 |
GM17205 [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 |
HLA type A3,A11,Bw15,Bw22; 46,XY; 4% of cells show random chromosome loss and 2% are tetraploid. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (98%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597). |
| Bakhoum SF, Ngo B, Laughney AM, Cavallo JA, Murphy CJ, Ly P, Shah P, Sriram RK, Watkins TBK, Taunk NK, Duran M, Pauli C, Shaw C, Chadalavada K, Rajasekhar VK, Genovese G, Venkatesan S, Birkbak NJ, McGranahan N, Lundquist M, LaPlant Q, Healey JH, Elemento O, Chung CH, Lee NY, Imielenski M, Nanjangud G, Pe'er D, Cleveland DW, Powell SN, Lammerding J, Swanton C, Cantley LC, Chromosomal instability drives metastasis through a cytosolic DNA response Nature: 2017 |
| PubMed ID: 29342134 |
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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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| Budman J, Chu G, Processing of DNA for nonhomologous end-joining by cell-free extract. EMBO J24(4):849-60 2005 |
| PubMed ID: 15692565 |
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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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| Lefferts JA, Lambert MW, Fanconi anemia cell lines deficient in alphaII spectrin express normal levels of alphaII spectrin mRNA. Biochem Biophys Res Commun307(3):510-5 2003 |
| PubMed ID: 12893251 |
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| Woodard RL, Lee KJ, Huang J, Dynan WS, Distinct roles for Ku protein in transcriptional reinitiation and DNA repair. J Biol Chem276(18):15423-33 2001 |
| PubMed ID: 11278739 |
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| Baumann P, West SC, DNA end-joining catalyzed by human cell-free extracts. Proc Natl Acad Sci U S A95:14066-70 1998 |
| PubMed ID: 9826654 |
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| Chen EH, Johnson EE 2nd, Vetter SM, Mitchell BS, Characterization of the deoxycytidine kinase promoter in human lymphoblast cell lines. J Clin Invest95:1660-8 1995 |
| PubMed ID: 7706474 |
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| Davidson BL, Tarle SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD, Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Am J Hum Genet48:951-8 1991 |
| PubMed ID: 2018042 |
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| Sequin, Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome & complementation group C xeroderma pigmentosum patients: Lack of correlation with cancer susceptibility. Am J Hum Genet42:468 (1988):951-8 1988 |
| PubMed ID: 2018042 |
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| Gan TE, Dadonna PE, Mitchell BS, Genetic expression of adenosine deaminase in human lymphoid malignancies. Blood69:1376-80 1987 |
| PubMed ID: 3567360 |
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| Otsuka F, Kukita A, Ultraviolet hypersensitivity of Cockayne syndrome lymphoblastoid lines-- the effects of exogenous beta-nicotinamide adenine dinucleotide. Photochem Photobiol44:757-60 1986 |
| PubMed ID: 3562572 |
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| Daddona PE, Shewach DS, Kelley WN, Argos P, Markham AF, Orkin SH, Human adenosine deaminase. cDNA and complete primary amino acid sequence. J Biol Chem259:12101-6 1984 |
| PubMed ID: 6090454 |
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| Daddona PE, Mitchell BS, Meuwissen HJ, Davidson BL, Wilson JM, Koller CA, Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation. J Clin Invest72:483-92 1983 |
| PubMed ID: 6603477 |
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| Edwards MJ, Taylor AM, Flude EJ, Bleomycin induced inhibition of DNA synthesis in ataxia-telangiectasia cell lines. Biochem Biophys Res Commun102:610-6 1981 |
| PubMed ID: 6171286 |
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| Vora S, Isozymes of human phosphofructokinase in blood cells and cultured cell lines: molecular and genetic evidence for a trigenic system. Blood57:724-32 1981 |
| PubMed ID: 6451249 |
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| Berger NA, Sikorski GW, Petzold SJ, Kurohara KK, Defective poly(adenosine diphosphoribose) synthesis in xeroderma pigmentosum. Biochemistry19:289-93 1980 |
| PubMed ID: 7352988 |
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| Yount WJ, Utsinger PD, Hutt LM, Buchanan PD, Korn JH, Fuller CR, Logue M, Pagano JS, Subpopulations of human lymphoblastoid cell lines. Correlation with the expression of surface receptors and content of Epstein-Barr virus genome. Scand J Immunol5:795-810 1976 |
| PubMed ID: 62390 |
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