ID   GM11761
AC   CVCL_0N16
DR   CLO; CLO_0021451
DR   Coriell; GM11761
DR   Wikidata; Q54845247
RX   CelloPub=CLPUB00447;
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Gly551Asp (c.1652G>A); ClinVar=VCV000007120; Zygosity=Heterozygous (Coriell=GM11761).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Arg553Ter (c.1657C>T); ClinVar=VCV000007122; Zygosity=Heterozygous (Coriell=GM11761).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   50Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 14
//
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).
//