ID   GM07464
AC   CVCL_0M59
DR   CLO; CLO_0016854
DR   Coriell; GM07464
DR   Wikidata; Q54842774
RX   CelloPub=CLPUB00447;
RX   PubMed=14709668;
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Arg553Ter (c.1657C>T); ClinVar=VCV000007122; Zygosity=Heterozygous (Coriell=GM07464).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   35Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 14
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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=14709668; DOI=10.1373/clinchem.2003.028068;
RA   Sebastian S., Spitzer S.G., Grosso L.E., Wilson J.A., Schaefer F.V.,
RA   Lyon E., Wolff D.J., Hajianpour A., Taylor A.K., Millson A.,
RA   Stenzel T.T.;
RT   "Multicenter characterization and validation of the intron-8 poly(T)
RT   tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis
RT   reference cell lines for cystic fibrosis transmembrane conductance
RT   regulator (CFTR) gene mutation assays.";
RL   Clin. Chem. 50:251-254(2004).
//