ID   GM00130
AC   CVCL_7274
SY   GM-130; GM 130; GM130; GM00130B; GM17201
DR   CLO; CLO_0013839
DR   CLO; CLO_0025838
DR   Coriell; GM00130
DR   Coriell; GM17201
DR   GEO; GSM569492
DR   GEO; GSM596265
DR   GEO; GSM596627
DR   GEO; GSM924803
DR   Wikidata; Q54836053
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1702221;
RX   PubMed=14583597;
RX   PubMed=16081512;
RX   PubMed=16244288;
RX   PubMed=16260726;
RX   PubMed=17668376;
RX   PubMed=20164059;
RX   PubMed=20889555;
RX   PubMed=29959025;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Part of: Human variation panel.
CC   Population: Caucasian.
CC   HLA typing: A*01:01:01,02:01:01; B*35:08:01,39:01:01; C*04:01:01,17:03:01; DPA1*01:03:01,01:03:01; DPB1*04:01:01G,04:02:01G; DQA1*01:05:01,05:05:01; DQB1*03:01:01,05:01:01; DRB1*10:01:01,11:04:01; DRB3*02:02:01 (PubMed=29959025).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; c.4243-35delT (4375-36delT); ClinVar=VCV000035885; Zygosity=Heterozygous (Coriell=GM00130).
CC   Sequence variation: Mutation; HGNC; 2621; CYP2C19; Simple; p.Pro227Pro (c.681G>A); ClinVar=VCV000016897; Zygosity=Unspecified; Note=Cryptic splice acceptor activation. CYP2C19*2 allele (Coriell=GM17201).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Deep quantitative phosphoproteome analysis.
CC   Omics: DNA methylation analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   25Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 27
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908;
RA   Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S.,
RA   Okada Y.;
RT   "Characterization of a splicing mutation in group A xeroderma
RT   pigmentosum.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990).
//
RX   PubMed=14583597; DOI=10.1152/physiolgenomics.00163.2003;
RA   Pastinen T., Sladek R., Gurd S., Sammak A., Ge B., Lepage P.,
RA   Lavergne K., Villeneuve A., Gaudin T., Brandstrom H., Beck A.,
RA   Verner A., Kingsley J., Harmsen E., Labuda D., Morgan K., Vohl M.-C.,
RA   Naumova A.K., Sinnett D., Hudson T.J.;
RT   "A survey of genetic and epigenetic variation affecting human gene
RT   expression.";
RL   Physiol. Genomics 16:184-193(2004).
//
RX   PubMed=16081512; DOI=10.1093/carcin/bgi204;
RA   Khan S.G., Oh K.-S., Shahlavi T., Ueda T., Busch D.B., Inui H.,
RA   Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J.,
RA   Schmidt D., Khadavi A., Metin A., Gozukara E.M., Slor H., Sarasin A.,
RA   Kraemer K.H.;
RT   "Reduced XPC DNA repair gene mRNA levels in clinically normal parents
RT   of xeroderma pigmentosum patients.";
RL   Carcinogenesis 27:84-94(2006).
//
RX   PubMed=16244288; DOI=10.1373/clinchem.2005.048686;
RA   Bernacki S.H., Beck J.C., Muralidharan K., Schaefer F.V.,
RA   Shrimpton A.E., Richie K.L., Levin B.C., Pont-Kingdon G.,
RA   Stenzel T.T.;
RT   "Characterization of publicly available lymphoblastoid cell lines for
RT   disease-associated mutations in 11 genes.";
RL   Clin. Chem. 51:2156-2159(2005).
//
RX   PubMed=16260726; DOI=10.1073/pnas.0508390102;
RA   Harris S.L., Gil G., Robins H., Hu W.-W., Hirshfield K.M., Bond E.,
RA   Bond G., Levine A.J.;
RT   "Detection of functional single-nucleotide polymorphisms that affect
RT   apoptosis.";
RL   Proc. Natl. Acad. Sci. U.S.A. 102:16297-16302(2005).
//
RX   PubMed=17668376; DOI=10.1086/519248;
RA   Prandini P., Deutsch S., Lyle R., Gagnebin M., Delucinge-Vivier C.,
RA   Delorenzi M., Gehrig C., Descombes P., Sherman S.L.,
RA   Dagna-Bricarelli F., Baldo C., Novelli A., Dallapiccola B.,
RA   Antonarakis S.E.;
RT   "Natural gene-expression variation in Down syndrome modulates the
RT   outcome of gene-dosage imbalance.";
RL   Am. J. Hum. Genet. 81:252-263(2007).
//
RX   PubMed=20164059; DOI=10.1074/mcp.M900616-MCP200;
RA   Bennetzen M.V., Larsen D.H., Bunkenborg J., Bartek J., Lukas J.,
RA   Andersen J.S.;
RT   "Site-specific phosphorylation dynamics of the nuclear proteome during
RT   the DNA damage response.";
RL   Mol. Cell. Proteomics 9:1314-1323(2010).
//
RX   PubMed=20889555; DOI=10.2353/jmoldx.2010.100090;
RA   Pratt V.M., Zehnbauer B.A., Wilson J.A., Epstein-Baak R., Babic N.,
RA   Bettinotti M.P., Buller-Burckle A.M., Butz K.G., Campbell M.,
RA   Civalier C., El-Badry A., Farkas D.H., Lyon E., Mandal S., McKinney J.,
RA   Muralidharan K., Noll L., Sander T., Shabbeer J., Smith C.-Y.H.,
RA   Telatar M., Toji L.H., Vairavan A., Vance C., Weck K.E., Wu A.H.B.,
RA   Yeo K.-T.J., Zeller M., Kalman L.V.;
RT   "Characterization of 107 genomic DNA reference materials for CYP2D6,
RT   CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for
RT   Molecular Pathology collaborative project.";
RL   J. Mol. Diagn. 12:835-846(2010).
//
RX   PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009;
RA   Bettinotti M.P., Ferriola D., Duke J.L., Mosbruger T.L., Tairis N.,
RA   Jennings L., Kalman L.V., Monos D.S.;
RT   "Characterization of 108 genomic DNA reference materials for 11 human
RT   leukocyte antigen loci: a GeT-RM collaborative project.";
RL   J. Mol. Diagn. 20:703-715(2018).
//