GM00130

GM00130 LCL from B-Lymphocyte

Description:

APPARENTLY HEALTHY INDIVIDUAL
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Affected:

No

Sex:

Male

Age:

25 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Apparently Healthy Collection

Alternate IDs

GM17201 [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

Family Member

Relation to Proband

proband

Confirmation

Karyotypic analysis and Case history

Species

Homo sapiens

Common Name

Human

Remarks

46,XY; negative for T cell 65,000 MW glycoprotein; positive for sIg and Ia (B cell) antigen; 4% of cells show random chromosome loss/gain; donor subject has a deletion of T at 375-36 in intron 23 of the CFTR gene (4375-36delT) and is also homozygous for the CFTR polymorphism: Met>Val at amino acid 470 Met470Val (M470V)], A>G at nucleotide 1540 in exon 10; analysis of a DNA variant in a noncoding region of the CFTR gene (polypyrimidine tract in intron 8) showed this donor has alleles 7T/7T

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

NEGATIVE CONTROLS

The genotype of this cell line was found to be wildtype for the following disorders: MTHFR-verified in 6 laboratories using methods including PCR + allele-specific hybridization, PCR + restriction endonuclease digestion and gel electrophoresis; Hemochromatosis-verified in 6 laboratories using methods including PCR + restriction endonuclease digestion and gel electrophoresis, PCR + allele-specific hybridization, pyrosequencing, and PCR + DNA sequencing; Factor V Leiden-verified in 6 laboratories using methods including PCR + restriction endonuclease digestion and gel electrophoresis, PCR + allele-specific hybridization, and Invader assay; Prothrombin-verified in 6 laboratories using methods including PCR + restriction endonuclease digestion and gel electrophoresis, PCR + allele-specific hybridization, Invader assay, and PCR with mismatched primer introducing allele-specific restriction enzyme site and gel electrophoresis; Huntington disease-verified in 6 laboratories using methods including PCR and PAGE with more than one primer set, PCR and denaturing PAGE with two primer set and fluorescent detection, PCR and PAGE with one primer set, PCR and fragment length analysis by high resolution capillary electrophoresis, and PCR and denaturing PAGE with one primer set and fluorescent detection; Fragile X-verified in 6 laboratories using methods including double restriction enzyme digest plus Southern blot, single restriction enzyme digest plus Southern blot, PCR with PAGE, PCR with PAGE and Southern blot, and PCR with high resolution agarose gel electrophoresis; Craniosynostosis (FGFR3)-verified in 6 laboratories using methods including PCR + DNA sequencing and PCR + restriction endonuclease digestion and gel electrophoresis; Connexin 26-verified in 5 laboratories using methods including PCR + allele-specific hybridization, allele-specific amplification assay with gel electrophoresis, PCR with mismatched primer introducing allele-specific restriction enzyme site and gel electrophoresis, LightCycler, and PCR + DNA sequencing; Hemoglobin S and C-verified in 6 laboratories using methods including PCR + DNA sequencing, PCR + restriction endonuclease digestion and gel electrophoresis, PCR + allele-specific hybridization, and PCR with mismatched primer introducing allele-specific restriction enzyme site and gel electrophoresis; Alpha-thalassemia-verified in 6 laboratories using methods including genomic Southern blot, PCR and gel electrophoresis, and PCR and other analysis. This cell line was found to be wildtype for the common CFTR mutations and this was verified in 7 laboratories using methods including Innogenetics, Roche Linear Array Gold, sequencing, electrophoresis for RFLP and size analysis (for S1235R only), mutation scanning (heteroduplex analysis, dHPLC, SSCP, DGGE, etc.), and ABI version 3.0 oligonucleotide ligation assay.

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 1

602421.0023; CFTR POLYMORPHISM

Identified Mutation

MET470VAL; Kerem et al. (1990) found 'normal' A or G variation at nucleotide 1540 resulting in methionine or valine, respectively, at position 470.

Gene

CFTR

Chromosomal Location

7q31.2

Allelic Variant 2

602421.0023; CFTR POLYMORPHISM

Identified Mutation

MET470VAL; Kerem et al. (1990) found 'normal' A or G variation at nucleotide 1540 resulting in methionine or valine, respectively, at position 470.

Phenotypic Data

Remarks

Publications

Watanabe M, Toudou M, Uchida T, Yoshikawa M, Aso H, Suemaru K, Change in mutation frequency at a TP53 hotspot during culture of ENU-mutagenised human lymphoblastoid cells Mutagenesis: 2018

PubMed ID: 31291449

Farabegoli F, Vettraino M, Manerba M, Fiume L, Roberti M, Di Stefano G, Galloflavin, a new lactate dehydrogenase inhibitor, induces the death of human breast cancer cells with different glycolytic attitude by affecting distinct signaling pathways European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences47:729-38 2012

PubMed ID: 22954722

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

Gong Y, Beitelshees AL, Wessel J, Langaee TY, Schork NJ, Johnson JA, Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit Pharmacogenetics and genomics17:267-75 2007

PubMed ID: 17496725

Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT., Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes. Clin Chem51(11):2156-9 2005

PubMed ID: 16244288

Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow-Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Levin BC, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT, Genetically characterized positive control cell lines derived from residual clinical blood samples Clinical chemistry51:2013-24 2005

PubMed ID: 16166172

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

Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, Digiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH, Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients. Carcinogenesis27(1):84-94 2005

PubMed ID: 16081512

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

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

Fronicke L, Wienberg J, Stone G, Adams L, Stanyon R, Towards the delineation of the ancestral eutherian genome organization: comparative genome maps of human and the African elephant (Loxodonta africana) generated by chromosome painting. Proc R Soc Lond B Biol Sci270(1522):1331-40 2003

PubMed ID: 12965023

Montanaro L, Tazzari PL, Derenzini M, Enhanced telomere shortening in transformed lymphoblasts from patients with X linked dyskeratosis Journal of clinical pathology56:583-6 2003

PubMed ID: 12890806

Olsen AK, Duale N, Bjoras M, Larsen CT, Wiger R, Holme JA, Seeberg EC, Brunborg G, Limited repair of 8-hydroxy-7,8-dihydroguanine residues in human testicular cells. Nucleic Acids Res31(4):1351-63 2003

PubMed ID: 12582255

Montanaro L, Chilla A, Trere D, Pession A, Govoni M, Tazzari PL, Derenzini M, Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines. J Invest Dermatol118(1):193-8 2002

PubMed ID: 11851894

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

Karlseder J, Broccoli D, Dai Y, Hardy S, de Lange T, p53- and ATM-dependent apoptosis induced by telomeres lacking TRF2. Science283(5406):1321-5 1999

PubMed ID: 10037601

Bergstrom DE, Grieco DA, Sonti MM, Fawcett JJ, Bell-Prince C, Cram LS, Narayanswami S, Simpson EM, The mouse Y chromosome: enrichment, sizing, and cloning by bivariate flow cytometry. Genomics48:304-13 1998

PubMed ID: 9545635

Myung K, Braastad C, He DM, Hendrickson EA, KARP-1 is induced by DNA damage in a p53- and ataxia telangiectasia mutated-dependent fashion. Proc Natl Acad Sci U S A95:7664-9 1998

PubMed ID: 9636207

Yoshikawa H, Fujiyama A, Nakai K, Inazawa J, Matsubara K, Detection and isolation of a novel human gene located on Xp11.2-p11.4 that escapes X-inactivation using a two-dimensional DNA mapping method. Genomics49:237-46 1998

PubMed ID: 9598311

Imamura Y, Kubota R, Wang Y, Asakawa S, Kudoh J, Mashima Y, Oguchi Y, Shimizu N, Human retina-specific amine oxidase (RAO): cDNA cloning, tissue expression, and chromosomal mapping. Genomics40:277-83 1997

PubMed ID: 9119395

Gingrich JC, Boehrer DM, Garnes JA, Johnson W, Wong BS, Bergmann A, Eveleth GG, Langlois RG, Carrano AV, Construction and characterization of human chromosome 2-specific cosmid, fosmid, and PAC clone libraries. Genomics32:65-74 1996

PubMed ID: 8786122

Grady DL, Robinson DL, Gersh M, Nickerson E, McPherson J, Wasmuth JJ, Overhauser J, Deaven LL, Moyzis RK, The generation and regional localization of 303 new chromosome 5 sequence-tagged sites. Genomics32:91-6 1996

PubMed ID: 8786125

Hirotsune S, Takahara T, Sasaki N, Imoto H, Okazaki Y, Eki T, Murakami Y, Abe M, Furuya K, Muramatsu M, Eto Y, Chapman VM, Hayashizaki Y, Construction of high-resolution physical maps from yeast artificial chromosomes using restriction landmark genomic scanning (RLGS). Genomics37:87-95 1996

PubMed ID: 8921374

Muratake T, Hayashi S, Ichikawa T, Kumanishi T, Ichimura Y, Kuwano R, Isobe T, Wang Y, Minoshima S, Shimizu N, Takahashi Y, Structural organization and chromosomal assignment of the human 14-3-3 eta chain gene (YWHAH). Genomics36:63-9 1996

PubMed ID: 8812417

States JC, Myrand SP, Splice site mutations in a xeroderma pigmentosum group A patient with delayed onset of neurological disease. Mutat Res363:171-7 1996

PubMed ID: 8765158

Yoshikawa H, de la Monte S, Nagai H, Wands JR, Matsubara K, Fujiyama A, Chromosomal assignment of human genomic NotI restriction fragments in a two-dimensional electrophoresis profile. Genomics31:28-35 1996

PubMed ID: 8808276

Ghiso NS, Eveleth GG, Lieuallen K, Lennon GG, Chromosomal assignment of 20 cDNAs using flow-sorted spot-blot stamps. Genomics28:570-2 1995

PubMed ID: 7490096

Sakai K, Ohta T, Minoshima S, Kudoh J, Wang Y, de Jong PJ, Shimizu N, Human ribosomal RNA gene cluster: identification of the proximal end containing a novel tandem repeat sequence. Genomics26:521-6 1995

PubMed ID: 7607675

Fukushima A, Okubo K, Sugino H, Hori N, Matoba R, Niiyama T, Murakawa K, Yoshii J, Yokoyama M, Matsubara K, Chromosomal assignment of HepG2 3'-directed partial cDNA sequences by Southern blot hybridization using monochromosomal hybrid cell panels. Genomics22:127-36 1994

PubMed ID: 7959758

Nishikimi M, Fukuyama R, Minoshima S, Shimizu N, Yagi K, Cloning and chromosomal mapping of the human nonfunctional gene for L- gulono-gamma-lactone oxidase, the enzyme for L-ascorbic acid biosynthesis missing in man. J Biol Chem269:13685-8 1994

PubMed ID: 8175804

Hayasaka K, Himoro M, Takada G, Takahashi E, Minoshima S, Shimizu N, Structure and localization of the gene encoding human peripheral myelin protein 2 (PMP2). Genomics18:244-8 1993

PubMed ID: 8288226

Bronstein SM, Hooth MJ, Swenberg JA, Skopek TR, Modulation of ethylnitrosourea-induced toxicity and mutagenicity in human cells by O6-benzylguanine. Cancer Res52:3851-6 1992

PubMed ID: 1617659

Bronstein SM, Skopek TR, Swenberg JA, Efficient repair of O6-ethylguanine, but not O4-ethylthymine or O2- ethylthymine, is dependent upon O6-alkylguanine-DNA alkyltransferase and nucleotide excision repair activities in human cells [see comments] Cancer Res52:2008-11 1992

PubMed ID: 1551130

Kawasaki K, Minoshima S, Kudoh J, Shimizu N, Shotgun polymerase chain reaction: construction of clone libraries specific to a NotI fragment of flow-sorted human chromosome 22. Genomics13:109-14 1992

PubMed ID: 1577475

Bronstein SM, Cochrane JE, Craft TR, Swenberg JA, Skopek TR, Toxicity, mutagenicity, and mutational spectra of N-ethyl-N-nitrosourea in human cell lines with different DNA repair phenotypes. Cancer Res51:5188-97 1991

PubMed ID: 1655249

Fukuyama R, Ichijoh Y, Minoshima S, Kitamura N, Shimizu N, Regional localization of the hepatocyte growth factor (HGF) gene to human chromosome 7 band q21.1. Genomics11:410-5 1991

PubMed ID: 1837534

Green ED, Mohr RM, Idol JR, Jones M, Buckingham JM, Deaven LL, Moyzis RK, Olson MV, Systematic generation of sequence-tagged sites for physical mapping of human chromosomes: application to the mapping of human chromosome 7 using yeast artificial chromosomes. Genomics11:548-64 1991

PubMed ID: 1837788

Minoshima S, Amagai M, Kudoh J, Fukuyama R, Hashimoto T, Nishikawa T, Shimizu N, Localization of the human gene for 230-kDal bullous pemphigoid autoantigen (BPAG1) to chromosome 6pter----q15. Cytogenet Cell Genet57:30-2 1991

PubMed ID: 1855390

Tobe T, Minoshima S, Yamase S, Choi NH, Tomita M, Shimizu N, Assignment of a human serum glycoprotein SP-40,40 gene (CLI) to chromosome 8. Cytogenet Cell Genet57:193-5 1991

PubMed ID: 1660393

Inazawa J, Nakagawa H, Misawa S, Abe T, Minoshima S, Fukuyama R, Maki M, Murachi T, Hatanaka M, Shimizu N, Assignment of the human calpastatin gene (CAST) to chromosome 5 at region q14----q22. Cytogenet Cell Genet54:156-8 1990

PubMed ID: 2265559

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

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

Sano H, Shiomi N, Imanishi K, Maie O, Shiomi T, DNA methylation in xeroderma pigmentosum. Mutat Res217:141-51 1989

PubMed ID: 2918867

Taira M, Kudoh J, Minoshima S, Iizasa T, Shimada H, Shimizu Y, Tatibana M, Shimizu N, Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRPS1-related genes to autosomes. Somat Cell Mol Genet15:29-37 1989

PubMed ID: 2536962

Trask B, van den Engh G, Mayall B, Gray JW, Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping. Am J Hum Genet45:739-52 1989

PubMed ID: 2479266

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PubMed ID: 3472713

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

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PubMed ID: 4006519

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PubMed ID: 4015618

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PubMed ID: 6548726

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PubMed ID: 6587566

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