ID   GM04331
AC   CVCL_0M27
DR   CLO; CLO_0019583
DR   Coriell; GM04331
DR   Wikidata; Q54838489
RX   CelloPub=CLPUB00447;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Ile105Serfs*2 (c.313delA) (444delA); ClinVar=VCV000048684; Zygosity=Heterozygous (Coriell=GM04331).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; c.1680-1G>A (IVS11-1G>A) (1812-1G-A); ClinVar=VCV000048681; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM04331).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_0M26 ! GM04330
SX   Male
AG   20Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 15
//
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).
//