ID   GM03465
AC   CVCL_0M21
DR   CLO; CLO_0017030
DR   BioSample; SAMN00808413
DR   Coriell; GM03465
DR   Wikidata; Q54838080
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM03465).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Gly551Asp (c.1652G>A); ClinVar=VCV000007120; Zygosity=Heterozygous (Coriell=GM03465).
CC   Derived from site: In situ; Heart, pericardium; UBERON=UBERON_0002407.
CC   Cell type: Fibroblast of heart; CL=CL_0002548.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_0M22 ! GM03466
SX   Male
AG   4Y
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).
//