Description:
APPARENTLY HEALTHY INDIVIDUAL
HUNTINGTON DISEASE; HD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Alternate IDs |
GM17220 [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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Country of Origin
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USA
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Family Member
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1
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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 |
Normal spouse of a Huntington's disease patient; 46,XY, 16% of cells show random chromosome loss; see GM02185 Fibroblast |
| 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 |
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| 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 |
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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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| 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 |
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| 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 |
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| 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 |
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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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| 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 |
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| 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 |
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| 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 |
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| 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 |
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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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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Danton MJ, Coleman MS, Isolation of mutant adenosine deaminase by coformycin affinity chromatography. Anal Biochem159:233-9 1986 |
| PubMed ID: 3492941 |
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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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| 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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| Wiginton DA, Hutton JJ, Immunoreactive protein in adenosine deaminase deficient human lymphoblast cell lines. J Biol Chem257:3211-7 1982 |
| PubMed ID: 6977542 |
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