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 |
| 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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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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| DNASE ACTIVITY |
Mezzina et al (Nucleic Acids Res 17:3091-3106,1989) determined the DNase specific activity for this normal lymphoblast culture as a control value for investigating Bloom's syndrome cultures. |
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| DNA LIGASE I AND II |
Mezzina et al (Nucleic Acids Res 17:3091-3106,1989) determined the DNA ligase specific activity for this normal lymphoblast culture as a control value for investigating Bloom's syndrome cultures. |
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| Remarks |
46,XX; negative for T cell 65,000 MW glycoprotein; positive for sIg and Ia (B cell) antigen; 4% of cells show random chromosome loss |
| Hodroj MH, Al Bast NAH, Taleb RI, Borjac J, Rizk S, Nettle Tea Inhibits Growth of Acute Myeloid Leukemia Cells In Vitro by Promoting Apoptosis Nutrients12: 2020 |
| PubMed ID: 32872275 |
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| Tannous S, Haykal T, Dhaini J, Hodroj MH, Rizk S, The anti-cancer effect of flaxseed lignan derivatives on different acute myeloid leukemia cancer cells Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie132:110884 2020 |
| PubMed ID: 33080470 |
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| Wheeler S, Haberkant P, Bhardwaj M, Tongue P, Ferraz MJ, Halter D, Sprong H, Schmid R, Aerts JMFG, Sullo N, Sillence DJ, Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease Neurobiology of disease127:242-252 2018 |
| PubMed ID: 30872158 |
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| Lin YW, Perkins JJ, Zhang Z, Aplan PD, Distinct mechanisms lead to HPRT gene mutations in leukemic cells Genes, chromosomes & cancer39:311-23 2004 |
| PubMed ID: 14978792 |
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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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| Sridharan D, Brown M, Lambert WC, McMahon LW, Lambert MW, Nonerythroid alphaII spectrin is required for recruitment of FANCA and XPF to
nuclear foci induced by DNA interstrand cross-links. J Cell Sci116(Pt 5):823-35 2003 |
| PubMed ID: 12571280 |
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| Rajavel KS, Neufeld EF, Nonsense-mediated decay of human HEXA mRNA. Mol Cell Biol21(16):5512-9 2001 |
| PubMed ID: 11463833 |
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| Kumaresan KR, Lambert MW, Fanconi anemia, complementation group A, cells are defective in ability to
produce incisions at sites of psoralen interstrand cross-links. Carcinogenesis21(4):741-51 2000 |
| PubMed ID: 10753211 |
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| McMahon LW, Walsh CE, Lambert MW, Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex. J Biol Chem274:32904-8 1999 |
| PubMed ID: 10551855 |
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| Sohar I, Sleat DE, Jadot M, Lobel P, Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. J Neurochem73:700-11 1999 |
| PubMed ID: 10428067 |
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| Feng S, Parrish DD, Lambert MW, A processive versus a distributive mechanism of action correlates with
differences in ability of normal and xeroderma pigmentosum group A endonucleases
to incise damaged nucleosomal DNA. Carcinogenesis18(2):279-86 1997 |
| PubMed ID: 9054619 |
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| Owman C, Nilsson C, Lolait SJ, Cloning of cDNA encoding a putative chemoattractant receptor. Genomics37:187-94 1996 |
| PubMed ID: 8921391 |
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| Boles DJ, Proia RL, The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation. Am J Hum Genet56:716-24 1995 |
| PubMed ID: 7887427 |
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| Kumaresan KR, Hang B, Lambert MW, Human endonucleolytic incision of DNA 3' and 5' to a site-directed psoralen monoadduct and interstrand cross-link. J Biol Chem270:30709-16 1995 |
| PubMed ID: 8530510 |
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| Nicotera T, Thusu K, Dandona P, Elevated production of active oxygen in Bloom's syndrome cell lines. Cancer Res53:5104-7 1993 |
| PubMed ID: 8221645 |
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| McDonald TV, Nghiem PT, Gardner P, Martens CL, Human lymphocytes transcribe the cystic fibrosis transmembrane conductance regulator gene and exhibit CF-defective cAMP-regulated chloride current. J Biol Chem267:3242-8 1992 |
| PubMed ID: 1371114 |
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| Parrish DD, Lambert MW, Chromatin-associated DNA endonucleases from xeroderma pigmentosum cells are defective in interaction with damaged nucleosomal DNA. Mutat Res235:65-80 1990 |
| PubMed ID: 2308593 |
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| Tsongalis GJ, Lambert WC, Lambert MW, Electroporation of normal human DNA endonucleases into xeroderma pigmentosum cells corrects their DNA repair defect. Carcinogenesis11:499-503 1990 |
| PubMed ID: 2311196 |
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| Tsongalis GJ, Lambert WC, Lambert MW, Correction of the ultraviolet light induced DNA-repair defect in xeroderma pigmentosum cells by electroporation of a normal human endonuclease [published erratum appears in Mutat Res 1990 Oct;245(2):135] Mutat Res244:257-63 1990 |
| PubMed ID: 2366820 |
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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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| Mezzina M, Nardelli J, Nocentini S, Remault G, Sarasin A, DNA ligase activity in human cell lines from normal donors and Bloom's syndrome patients. Nucleic Acids Res17:3091-106 1989 |
| PubMed ID: 2726453 |
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| Taylor MW, Long T, Martinez-Valdez H, Downing J, Zeige G, Induction of gamma-interferon activity by elevated temperatures in human B-lymphoblastoid cell lines. Proc Natl Acad Sci U S A81:4033-6 1984 |
| PubMed ID: 6330733 |
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| Cohen MM, Simpson SJ, Increased clastogenicity and decreased inhibition of DNA synthesis by neocarzinostatin and tallysomycin in ataxia telangiectasia lymphoid cells. Mutat Res112:119-28 1983 |
| PubMed ID: 6188042 |
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| Taylor MW, Kothari RM, Holland GD, Martinez-Valdez H, Zeige G, A comparison of purine and pyrimidine pools in Bloom's syndrome and normal cells. Cancer Biochem Biophys7:19-25 1983 |
| PubMed ID: 6667451 |
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| Waldmann TA, Misiti J, Nelson DL, Kraemer KH, Ataxia-telangiectasis: a multisystem hereditary disease with immunodeficiency, impaired organ maturation, x-ray hypersensitivity, and a high incidence of neoplasia [clinical conference]. Ann Intern Med99:367-79 1983 |
| PubMed ID: 6193747 |
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| Cohen MM, Fruchtman CE, Simpson SJ, Martin AO, The cytogenetic response of Fanconi's anemia lymphoblastoid cell lines to various clastogens. Cytogenet Cell Genet34:230-40 1982 |
| PubMed ID: 6183057 |
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| Kohn PH, Kraemer KH, Buchanan JK, Influence of ataxia telangiectasia gene dosage on bleomycin-induced chromosome breakage and inhibition of replication in human lymphoblastoid cell lines. Exp Cell Res137:387-95 1982 |
| PubMed ID: 6173245 |
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| Cohen MM, Simpson SJ, Pazos L, Specificity of bleomycin-induced cytotoxic effects on ataxia telangiectasia lymphoid cell lines. Cancer Res41:1817-23 1981 |
| PubMed ID: 6163529 |
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| Kraemer KH, Waters HL, Buchanan JK, Survival of human lymphoblastoid cells after DNA damage measured by growth in microtiter wells. Mutat Res72:285-94 1980 |
| PubMed ID: 6160397 |
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