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NA00131 DNA from LCL

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Female

Age:

23 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Apparently Healthy Collection
Alternate IDs GM17202 [APPARENTLY HEALTHY INDIVIDUAL]
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Relation to Proband proband
Confirmation Karyotypic analysis and Case history
Species Homo sapiens
Common Name Human
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).

Characterizations

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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
 

Phenotypic Data

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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).

Publications

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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
 
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
 
Nickel GC, Tefft DL, Goglin K, Adams MD, An empirical test for branch-specific positive selection Genetics179:2183-93 2008
PubMed ID: 18689901
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
Cheng L, Bucana CD, Wei Q, Fluorescence in situ hybridization method for measuring transfection efficiency. Biotechniques21(3):486-91 1996
PubMed ID: 8879589
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
Yu WD, Wenger SL, Steele MW, X chromosome imprinting in fragile X syndrome. Hum Genet85:590-4 1990
PubMed ID: 2227950
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
Takahashi Y, Fukushige S, Murotsu T, Matsubara K, Structure of human cholecystokinin gene and its chromosomal location. Gene50:353-60 1986
PubMed ID: 3582983
 
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
 
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
 
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
 
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
 
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
 
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
 
Daddona PE, Human adenosine deaminase. Properties and turnover in cultured T and B lymphoblasts. J Biol Chem256:12496-501 1981
PubMed ID: 6975278
 
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
 
Choi KW, Bloom AD, Cloning human lymphocytes in vitro. Nature227:171-3 1970
PubMed ID: 5269792

External Links

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dbSNP dbSNP ID: 10318

Images

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View karyotype 
karyotype 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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