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GM02184 LCL from B-Lymphocyte

Description:

APPARENTLY HEALTHY INDIVIDUAL
HUNTINGTON DISEASE; HD

Affected:

No

Sex:

Male

Age:

36 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Alternate IDs GM17220 [APPARENTLY HEALTHY INDIVIDUAL]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Country of Origin USA
Family Member 1
Relation to Proband proband
Confirmation Karyotypic analysis and Case history
Species Homo sapiens
Common Name Human
Remarks Normal spouse of a Huntington's disease patient; 46,XY, 16% of cells show random chromosome loss; see GM02185 Fibroblast

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 Normal spouse of a Huntington's disease patient; 46,XY, 16% of cells show random chromosome loss; see GM02185 Fibroblast

Publications

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Bhalla K, Jaber S, Reagan K, Hamburg A, Underwood KF, Jhajharia A, Singh M, Bhandary B, Bhat S, Nanaji NM, Hisa R, McCracken C, Creasy HH, Lapidus RG, Kingsbury T, Mayer D, Polster B, Gartenhaus RB, SIRT3, a metabolic target linked to ataxia-telangiectasia mutated (ATM) gene deficiency in diffuse large B-cell lymphoma Scientific reports10:21159 2020
PubMed ID: 33273545
 
JunGang Z, Jun T, WanFu M, KaiMing R, FBXW7-mediated degradation of CCDC6 is impaired by ATM during DNA damage response in lung cancer cells FEBS letters586:4257-63 2012
PubMed ID: 23108047
 
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
 
Asumen MG, Ifeacho TV, Cockerham L, Pfandl C, Wall NR, Dynamic changes to survivin subcellular localization are initiated by DNA damage OncoTargets and therapy3:129-37 2010
PubMed ID: 20856848
 
Boehme KA, Kulikov R, Blattner C, p53 stabilization in response to DNA damage requires Akt/PKB and DNA-PK Proceedings of the National Academy of Sciences of the United States of America105:7785-90 2008
PubMed ID: 18505846
 
Marcelain K, De La Torre C, González P, Pincheira J, Roles of nibrin and AtM/ATR kinases on the G2 checkpoint under endogenous or radio-induced DNA damage Biological research38:179-85 2005
PubMed ID: 16238096
 
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
 
Wang W, Takimoto R, Rastinejad F, El-Deiry WS, Stabilization of p53 by CP-31398 inhibits ubiquitination without altering phosphorylation at serine 15 or 20 or MDM2 binding. Mol Cell Biol23(6):2171-81 2003
PubMed ID: 12612087
 
Gottifredi V, Shieh S, Taya Y, Prives C, From the Cover: p53 accumulates but is functionally impaired when DNA synthesis is blocked. Proc Natl Acad Sci U S A98(3):1036-41 2001
PubMed ID: 11158590
 
Lin WC, Lin FT, Nevins JR, Selective induction of E2F1 in response to DNA damage, mediated by ATM-dependent phosphorylation. Genes Dev15(14):1833-44 2001
PubMed ID: 11459832
 
Borghesani PR, Alt FW, Bottaro A, Davidson L, Aksoy S, Rathbun GA, Roberts TM, Swat W, Segal RA, Gu Y, Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice. Proc Natl Acad Sci U S A97:3336-41 2000
PubMed ID: 10716718
 
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
 
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
 
Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A, Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am J Hum Genet62:551-61 1998
PubMed ID: 9497252
 
Siliciano JD, Canman CE, Taya Y, Sakaguchi K, Appella E, Kastan MB, DNA damage induces phosphorylation of the amino terminus of p53. Genes Dev11:3471-81 1997
PubMed ID: 9407038
 
Chen G, Lee EYHP, The product of the ATM gene is a 370-kDa nuclear phosphoprotein. J Biol Chem271:33693-7 1996
PubMed ID: 8969240
 
Nelson WG, Kastan MB, DNA strand breaks: the DNA template alterations that trigger p53- dependent DNA damage response pathways. Mol Cell Biol14:1815-23 1994
PubMed ID: 8114714
 
Kastan MB, Zhan Q, el-Deiry WS, Carrier F, Jacks T, Walsh WV, Plunkett BS, Vogelstein B, Fornace AJ Jr, A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Cell71:587-97 1992
PubMed ID: 1423616
 
Akeson AL, Wiginton DA, States JC, Perme CM, Dusing MR, Hutton JJ, Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing. Proc Natl Acad Sci U S A84:5947-51 1987
PubMed ID: 3475710
 
Danton MJ, Coleman MS, Isolation of mutant adenosine deaminase by coformycin affinity chromatography. Anal Biochem159:233-9 1986
PubMed ID: 3492941
 
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
 
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
 
Wiginton DA, Hutton JJ, Immunoreactive protein in adenosine deaminase deficient human lymphoblast cell lines. J Biol Chem257:3211-7 1982
PubMed ID: 6977542

External Links

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dbSNP dbSNP ID: 10492
Gene Cards HD
HD (verified)
Gene Ontology GO:0003714 transcription corepressor activity
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0005625 soluble fraction
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006915 apoptosis
GO:0006917 induction of apoptosis
GO:0007610 behavior
GO:0008017 microtubule binding
GO:0009405 pathogenesis
GO:0009887 organogenesis
GEO GEO Accession No: GSM1326409
GEO Accession No: GSM1326424
GEO Accession No: GSM634846
GEO Accession No: GSM634847
GEO Accession No: GSM634848
GEO Accession No: GSM634852
GEO Accession No: GSM634853
GEO Accession No: GSM634854
NCBI Gene Gene ID:3064
NCBI GTR 143100 HUNTINGTON DISEASE; HD
OMIM 143100 HUNTINGTON DISEASE; HD

Images

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View karyotype 

Culture Protocols

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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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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