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Cellosaurus GM00130 (CVCL_7274)

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Cell line name GM00130
Synonyms GM-130; GM 130; GM130; GM00130B; GM17201
Accession CVCL_7274
Resource Identification Initiative To cite this cell line use: GM00130 (RRID:CVCL_7274)
Comments Part of: Genetic Testing Reference Material (GeT-RM) samples.
Part of: Human variation panel.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Deep quantitative phosphoproteome analysis.
Derived from sampling site: Peripheral blood.
Sequence variations Heterozygous for CFTR c.4243-35delT (4375-36delT) (Coriell).
CYP2C19 p.Pro227Pro (c.681G>A); cryptic splice acceptor activation; allele CYP2C19*2 (Coriell).
HLA typing Source: PubMed=29959025
Class I
HLA-AA*01:01:01,02:01:01
HLA-BB*35:08:01,39:01:01
HLA-CC*04:01:01,17:03:01
Class II
HLA-DPDPA1*01:03:01,01:03:01
DPB1*04:01:01G,04:02:01G
HLA-DQDQA1*01:05:01,05:05:01
DQB1*03:01:01,05:01:01
HLA-DRDRB1*10:01:01,11:04:01
DRB3*02:02:01
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 25Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

PubMed=1702221; DOI=10.1073/pnas.87.24.9908
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.A. 87:9908-9912(1990)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=14583597; DOI=10.1152/physiolgenomics.00163.2003
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 M.-C., Naumova A.K., Sinnett D., Hudson T.J.
A survey of genetic and epigenetic variation affecting human gene expression.
Physiol. Genomics 16:184-193(2004)

PubMed=16244288; DOI=10.1373/clinchem.2005.048686
Bernacki S.H., Beck J.C., Muralidharan K., Schaefer F.V., Shrimpton A.E., Richie K.L., Levin B.C., Pont-Kingdon G., Stenzel T.T.
Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.
Clin. Chem. 51:2156-2159(2005)

PubMed=16260726; DOI=10.1073/pnas.0508390102
Harris S.L., Gil G., Robins H., Hu W., Hirshfield K., Bond E., Bond G., Levine A.J.
Detection of functional single-nucleotide polymorphisms that affect apoptosis.
Proc. Natl. Acad. Sci. U.S.A. 102:16297-16302(2005)

PubMed=16081512; DOI=10.1093/carcin/bgi204
Khan S.G., Oh K.-S., Shahlavi T., Ueda T., Busch D.B., Inui H., Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J., Schmidt D., Khadavi A., Metin A., Gozukara E., Slor H., Sarasin A., Kraemer K.H.
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Carcinogenesis 27:84-94(2006)

PubMed=17668376; DOI=10.1086/519248
Prandini P., Deutsch S., Lyle R., Gagnebin M., Delucinge Vivier C., Delorenzi M., Gehrig C., Descombes P., Sherman S., Dagna Bricarelli F., Baldo C., Novelli A., Dallapiccola B., Antonarakis S.E.
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
Am. J. Hum. Genet. 81:252-263(2007)

PubMed=20164059; DOI=10.1074/mcp.M900616-MCP200
Bennetzen M.V., Larsen D.H., Bunkenborg J., Bartek J., Lukas J., Andersen J.S.
Site-specific phosphorylation dynamics of the nuclear proteome during the DNA damage response.
Mol. Cell. Proteomics 9:1314-1323(2010)

PubMed=20889555; DOI=10.2353/jmoldx.2010.100090
Pratt V.M., Zehnbauer B., Wilson J.A., Baak R., Babic N., Bettinotti M.P., Buller A., Butz K., Campbell M., Civalier C., El-Badry A., Farkas D.H., Lyon E., Mandal S., McKinney J., Muralidharan K., Noll L., Sander T., Shabbeer J., Smith C., Telatar M., Toji L.H., Vairavan A., Vance C., Weck K.E., Wu A.H.B., Yeo K.-T.J., Zeller M., Kalman L.V.
Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.
J. Mol. Diagn. 12:835-846(2010)

PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009
Bettinotti M.P., Ferriola D., Duke J.L., Mosbruger T.L., Tairis N., Jennings L., Kalman L.V., Monos D.
Characterization of 108 genomic DNA reference materials for 11 human leukocyte antigen loci: a GeT-RM collaborative project.
J. Mol. Diagn. 20:703-715(2018)

Cross-references
Cell line collections Coriell; GM00130
Coriell; GM17201
Ontologies CLO; CLO_0013839
CLO; CLO_0025838
Gene expression databases GEO; GSM569492
GEO; GSM596265
GEO; GSM596627
Other Wikidata; Q54836053
Entry history
Entry creation04-Apr-2012
Last entry update02-Jul-2020
Version number21