ID   GM18802
AC   CVCL_0N29
DR   CLO; CLO_0026223
DR   Coriell; GM18802
DR   Wikidata; Q54849857
CC   Population: Caucasian; Czechoslovakian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Tyr122Ter (c.366T>A); ClinVar=VCV000038833; Zygosity=Heterozygous (Coriell=GM18802).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Arg1158Ter (c.3472C>T); ClinVar=VCV000007144; Zygosity=Heterozygous (Coriell=GM18802).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 13
//