ID   GM24683
AC   CVCL_Y802
SY   GM24683*C; CIMRi003-A
DR   Coriell; GM24683
DR   hPSCreg; CIMRi003-A
DR   SKIP; SKIP000735
DR   Wikidata; Q54853821
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Homozygous (Coriell=GM24683).
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)
HI   CVCL_V210 ! GM01014
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 15
//