GM03299

GM03299 LCL from B-Lymphocyte

Description:

APPARENTLY HEALTHY INDIVIDUAL

Affected:

No

Sex:

Female

Age:

8 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Apparently Healthy Collection

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Relation to Proband

proband

Confirmation

Karyotypic analysis and Case history

Species

Homo sapiens

Common Name

Human

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

Characterizations

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

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.

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.

Phenotypic Data

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

Publications

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

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

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

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

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

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

Rajavel KS, Neufeld EF, Nonsense-mediated decay of human HEXA mRNA. Mol Cell Biol21(16):5512-9 2001

PubMed ID: 11463833

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

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

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

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

Owman C, Nilsson C, Lolait SJ, Cloning of cDNA encoding a putative chemoattractant receptor. Genomics37:187-94 1996

PubMed ID: 8921391

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

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

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

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

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

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

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

Yu WD, Wenger SL, Steele MW, X chromosome imprinting in fragile X syndrome. Hum Genet85:590-4 1990

PubMed ID: 2227950

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

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

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

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

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

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

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

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

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