ID   GM04339
AC   CVCL_0M30
SY   GM 4339
DR   CLO; CLO_0019563
DR   Coriell; GM04339
DR   Wikidata; Q54838493
RX   CelloPub=CLPUB00447;
RX   PubMed=2445735;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Gly85Glu (c.254G>A); ClinVar=VCV000007143; Zygosity=Heterozygous (Coriell=GM04339).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM04339).
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   Male
AG   24Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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).
//
RX   PubMed=2445735; DOI=10.1016/S0021-9258(18)47730-7;
RA   Lin, Pei-Yuan
RA   Gruenstein, Eric
RT   "Identification of a defective cAMP-stimulated Cl- channel in cystic
RT   fibrosis fibroblasts.";
RL   J. Biol. Chem. 262:15345-15347(1987).
//