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 |
GM17202 [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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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,XX; 2% of cells show random loss of 1 chromosome. This cell line may be monoclonal as indicated by the very high proportion of IgL kappa (99%) compared to total lgL expression determined by cDNA microarray (see PMID: 14583597). |
| Oppezzo A, Bourseguin J, Renaud E, Pawlikowska P, Rosselli F, Microphthalmia transcription factor expression contributes to bone marrow failure in Fanconi anemia The Journal of clinical investigation: 2019 |
| PubMed ID: 31877112 |
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| Wood PL, Smith T, Pelzer L, Goodenowe DB, Targeted metabolomic analyses of cellular models of pelizaeus-merzbacher disease reveal plasmalogen and myo-inositol solute carrier dysfunction Lipids in health and disease10:102 2011 |
| PubMed ID: 21682894 |
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| Nickel GC, Tefft DL, Goglin K, Adams MD, An empirical test for branch-specific positive selection Genetics179:2183-93 2008 |
| PubMed ID: 18689901 |
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| Atwal GS, Bond GL, Metsuyanim S, Papa M, Friedman E, Distelman-Menachem T, Ben Asher E, Lancet D, Ross DA, Sninsky J, White TJ, Levine AJ, Yarden R, Haplotype structure and selection of the MDM2 oncogene in humans Proceedings of the National Academy of Sciences of the United States of America104:4524-9 2007 |
| PubMed ID: 17360557 |
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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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| Lux A, Beil C, Majety M, Barron S, Gallione CJ, Kuhn HM, Berg JN, Kioschis P, Marchuk DA, Hafner M, Human retroviral gag- and gag-pol-like proteins interact with the transforming growth factor-beta receptor activin receptor-like kinase 1. J Biol Chem280(9):8482-93 2005 |
| PubMed ID: 15611116 |
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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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| Hu JJ, Hall MC, Grossman L, Hedayati M, McCullough DL, Lohman K, Case LD, Deficient nucleotide excision repair capacity enhances human prostate cancer risk. Cancer Res64(3):1197-201 2004 |
| PubMed ID: 14871857 |
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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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| 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 |
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| Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AC, Cooper PR, Smallwood AC, Joyce JA, Schofield PN, Reik W, Nicholls RD, Weksberg R, Driscoll DJ, Maher ER, Shows TB, Higgins MJ, A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci U S A96:8064-9 1999 |
| PubMed ID: 10393948 |
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| Cheng L, Bucana CD, Wei Q, Fluorescence in situ hybridization method for measuring transfection efficiency. Biotechniques21(3):486-91 1996 |
| PubMed ID: 8879589 |
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| Greger V, Knoll JH, Woolf E, Glatt K, Tyndale RF, DeLorey TM, Olsen RW, Tobin AJ, Sikela JM, Nakatsu Y, et al, The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation. Genomics26:258-64 1995 |
| PubMed ID: 7601451 |
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| Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY, Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end. Genomics17:476-84 1993 |
| PubMed ID: 7691719 |
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| Golden WL, von Kap-Herr C, Kurth B, Wright RM, Flickinger CJ, Eddy R, Shows T, Herr JC, Refinement of the localization of the gene for human intraacrosomal protein SP-10 (ACRV1) to the junction of bands q23-->q24 of chromosome 11 by nonisotopic in situ hybridization. Genomics18:446-9 1993 |
| PubMed ID: 8288254 |
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| Rose TM, Lagrou MJ, Fransson I, Werelius B, Delattre O, Thomas G, de Jong PJ, Todaro GJ, Dumanski JP, The genes for oncostatin M (OSM) and leukemia inhibitory factor (LIF) are tightly linked on human chromosome 22. Genomics17:136-40 1993 |
| PubMed ID: 8406444 |
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| Sanford J, Kim BW, Deaven LL, Jones C, Higgins MJ, Nowak NJ, Shows TB, A human chromosome 11 NotI end clone library. Genomics15:653-8 1993 |
| PubMed ID: 8468060 |
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| Vooijs M, Yu LC, Tkachuk D, Pinkel D, Johnson D, Gray JW, Libraries for each human chromosome, constructed from sorter-enriched chromosomes by using linker-adaptor PCR. Am J Hum Genet52:586-97 1993 |
| PubMed ID: 8447324 |
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| Tanigami A, Tokino T, Takita K, Takiguchi S, Nakamura Y, A 14-Mb physical map of the region at chromosome 11q13 harboring the MEN1 locus and the tumor amplicon region. Genomics13:16-20 1992 |
| PubMed ID: 1349571 |
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| Nakamura N, Sugino H, Takahara K, Jin C, Fukushige S, Matsubara K, Endogenous retroviral LTR DNA sequences as markers for individual human chromosomes. Cytogenet Cell Genet57:18-22 1991 |
| PubMed ID: 1713140 |
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| Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990 |
| PubMed ID: 1702221 |
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| Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y, Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain [see comments] Nature348:73-6 1990 |
| PubMed ID: 2234061 |
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| Yu WD, Wenger SL, Steele MW, X chromosome imprinting in fragile X syndrome. Hum Genet85:590-4 1990 |
| PubMed ID: 2227950 |
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| Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM Jr, Wurster-Hill D, Wharton R, Latt SA, Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet33:66-77 1989 |
| PubMed ID: 2568752 |
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| Nicotera TM, Notaro J, Notaro S, Schumer J, Sandberg AA, Elevated superoxide dismutase in Bloom's syndrome: a genetic condition of oxidative stress. Cancer Res49:5239-43 1989 |
| PubMed ID: 2766291 |
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| Tantravahi U, Nicholls RD, Stroh H, Ringer S, Neve RL, Kaplan L, Wharton R, Wurster-Hill D, Graham JM Jr, Cantu ES, et al, Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome. Am J Med Genet33:78-87 1989 |
| PubMed ID: 2750788 |
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| Gray JW, Dean PN, Fuscoe JC, Peters DC, Trask BJ, van den Engh GJ, Van Dilla MA, High-speed chromosome sorting. Science238:323-9 1987 |
| PubMed ID: 2443974 |
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| Horii A, Kobayashi T, Tomita N, Yamamoto T, Fukushige S, Murotsu T, Ogawa M, Mori T, Matsubara K, Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene. Biochem Biophys Res Commun149:635-41 1987 |
| PubMed ID: 3501289 |
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| Kanda N, Fukushige S, Murotsu T, Yoshida MC, Tsuchiya M, Asano S, Kaziro Y, Nagata S, Human gene coding for granulocyte-colony stimulating factor is assigned to the q21-q22 region of chromosome 17. Somat Cell Mol Genet13:679-84 1987 |
| PubMed ID: 3499671 |
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| Tokino T, Fukushige S, Nakamura T, Nagaya T, Murotsu T, Shiga K, Aoki N, Matsubara K, Chromosomal translocation and inverted duplication associated with integrated hepatitis B virus in hepatocellular carcinomas. J Virol61:3848-54 1987 |
| PubMed ID: 2824819 |
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| Yamanashi Y, Fukushige S, Semba K, Sukegawa J, Miyajima N, Matsubara K, Yamamoto T, Toyoshima K, The yes-related cellular gene lyn encodes a possible tyrosine kinase similar to p56lck. Mol Cell Biol7:237-43 1987 |
| PubMed ID: 3561390 |
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| Fukushige S, Murotsu T, Matsubara K, Chromosomal assignment of human genes for gastrin, thyrotropin (TSH)- beta subunit and C-erbB-2 by chromosome sorting combined with velocity sedimentation and Southern hybridization. Biochem Biophys Res Commun134:477-83 1986 |
| PubMed ID: 3511905 |
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| Lebo RV, Golbus MS, Cheung MC, Detecting abnormal human chromosome constitutions by dual laser flow cytogenetics. Am J Med Genet25:519-29 1986 |
| PubMed ID: 2431619 |
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| Ochiya T, Fujiyama A, Fukushige S, Hatada I, Matsubara K, Molecular cloning of an oncogene from a human hepatocellular carcinoma. Proc Natl Acad Sci U S A83:4993-7 1986 |
| PubMed ID: 3014525 |
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| Takahashi Y, Fukushige S, Murotsu T, Matsubara K, Structure of human cholecystokinin gene and its chromosomal location. Gene50:353-60 1986 |
| PubMed ID: 3582983 |
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| Morin JW, Black A, Wu M, Beychok S, cDNA of the immunoglobulin kappa chain of an Epstein-Barr virus- transformed human lymphoid cell line: partial sequence determination and bacterial expression. Proc Natl Acad Sci U S A82:7025-9 1985 |
| PubMed ID: 2413453 |
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| Adrian GS, Wiginton DA, Hutton JJ, Characterization of normal and mutant adenosine deaminase messenger RNAs by translation and hybridization to a cDNA probe. Hum Genet68:169-72 1984 |
| PubMed ID: 6548726 |
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| Adrian GS, Wiginton DA, Hutton JJ, Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines. Mol Cell Biol4:1712-7 1984 |
| PubMed ID: 6208479 |
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| Adrian GS, Hutton JJ, Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency. J Clin Invest71:1649-60 1983 |
| PubMed ID: 6134754 |
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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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| Wiginton DA, Adrian GS, Friedman RL, Suttle DP, Hutton JJ, Cloning of cDNA sequences of human adenosine deaminase. Proc Natl Acad Sci U S A80:7481-5 1983 |
| PubMed ID: 6200875 |
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| Daddona PE, Human adenosine deaminase. Properties and turnover in cultured T and B lymphoblasts. J Biol Chem256:12496-501 1981 |
| PubMed ID: 6975278 |
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| Daddona PE, Kelley WN, Characteristics of an aminohydrolase distinct from adenosine deaminase in cultured human lymphoblasts. Biochim Biophys Acta658:280-90 1981 |
| PubMed ID: 6972784 |
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| Choi KW, Bloom AD, Cloning human lymphocytes in vitro. Nature227:171-3 1970 |
| PubMed ID: 5269792 |
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