ID   GM02828
AC   CVCL_0M19
DR   CLO; CLO_0012740
DR   BioSample; SAMN00808140
DR   Coriell; GM02828
DR   Wikidata; Q54837717
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM02828).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Val520Phe (c.1558G>T); ClinVar=VCV000007150; Zygosity=Heterozygous (Coriell=GM02828).
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)
SX   Female
AG   26Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 13
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//