ID   GM03469
AC   CVCL_7390
SY   GM03469A; GM17066
DR   CLO; CLO_0014565
DR   CLO; CLO_0017026
DR   BioSample; SAMN00808417
DR   Coriell; GM03469
DR   Coriell; GM17066
DR   Wikidata; Q54838084
RX   CelloPub=CLPUB00447;
RX   PubMed=16244288;
RX   PubMed=23665875;
CC   Part of: Human variation panel.
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Arg170His (c.509G>A); ClinVar=VCV000053983; Zygosity=Heterozygous (Coriell=GM03469).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: CNV analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 22
//
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   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=23665875; DOI=10.1534/g3.113.006577;
RA   Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M.,
RA   Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.;
RT   "A dynamic database of microarray-characterized cell lines with
RT   various cytogenetic and genomic backgrounds.";
RL   G3 (Bethesda) 3:1143-1149(2013).
//