ID   GM13032
AC   CVCL_UH42
DR   Coriell; GM13032
DR   Wikidata; Q93828198
RX   PubMed=14709668;
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Ile506Val (c.1516A>G); ClinVar=VCV000007131; Zygosity=Heterozygous (Coriell=GM13032).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Discontinued: Coriell; GM13032; probable.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Transformed cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 8
//
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).
//