ID   GM08889
AC   CVCL_0N09
DR   CLO; CLO_0011197
DR   BioSample; SAMN00798260
DR   Coriell; GM08889
DR   Wikidata; Q54843388
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM08889).
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Arg1162Ter (c.3484C>T); ClinVar=VCV000007137; Zygosity=Heterozygous (Coriell=GM08889).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   19FW
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//