Description:
APPARENTLY HEALTHY INDIVIDUAL
CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Apparently Healthy Collection |
| Alternate IDs |
GM17201 [APPARENTLY HEALTHY INDIVIDUAL] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis and Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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.
|
| 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 |
| 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 |
| |
| 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 |
| |
| Warren ST, Zhang F, Licameli GR, Peters JF, The fragile X site in somatic cell hybrids: an approach for molecular cloning of fragile sites. Science237:420-3 1987 |
| PubMed ID: 3603029 |
| |
| Devore-Carter DL, Pietrzak E, Kakati S, A method to generate microcells from human lymphoblasts for use in microcell mediated chromosome transfer. In Vitro Cell Dev Biol22:615-20 1986 |
| PubMed ID: 3533893 |
| |
| Lebo RV, Anderson LA, Lau YF, Flandermeyer R, Kan YW, Flow-sorting analysis of normal and abnormal human genomes. Cold Spring Harb Symp Quant Biol51 Pt 1:169-76 1986 |
| 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 |
| |
| Brocas H, Szpirer J, Lebo RV, Levan G, Szpirer C, Cheung MC, Vassart G, The thyroglobulin gene resides on chromosome 8 in man and on chromosome 7 in the rat. Cytogenet Cell Genet39:150-3 1985 |
| PubMed ID: 4006519 |
| |
| Decker RS, Mohrenweiser HW, Cell proliferation-associated expression of a recently evolved isozyme of triosephosphate isomerase. Biochem Genet23:267-80 1985 |
| PubMed ID: 4015618 |
| |
| 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 |
| |
| Lebo RV, Gorin F, Fletterick RJ, Kao FT, Cheung MC, Bruce BD, Kan YW, High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science225:57-9 1984 |
| PubMed ID: 6587566 |
| |
| 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 |
| |
| Daddona PE, Mitchell BS, Meuwissen HJ, Davidson BL, Wilson JM, Koller CA, Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation. J Clin Invest72:483-92 1983 |
| PubMed ID: 6603477 |
| |
| 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 |
| |
| Kulemann-Kloene H, Krag SS, Bang FB, Mucus secretion-stimulating activity in human lymphoblastoid cells. Science217:736-7 1982 |
| PubMed ID: 6285469 |
| |
| Daddona PE, Human adenosine deaminase. Properties and turnover in cultured T and B lymphoblasts. J Biol Chem256:12496-501 1981 |
| PubMed ID: 6975278 |
| |
| Daddona PE, Kelley WN, Characteristics of an aminohydrolase distinct from adenosine deaminase in cultured human lymphoblasts. Biochim Biophys Acta658:280-90 1981 |
| PubMed ID: 6972784 |
| |
| McGarrity GJ, Phillips DM, Vaidya AB, Mycoplasmal infection of lymphocyte cell cultures: infection with M. salivarium. In Vitro16:346-56 1980 |
| PubMed ID: 7399547 |
| |
| Moses RE, Beaudet AL, Apurinic DNA endonuclease activities in repair-deficient human cell lines. Nucleic Acids Res5:463-73 1978 |
| PubMed ID: 634794 |
|
|