ID   GM12895
AC   CVCL_GZ45
DR   CLO; CLO_0022864
DR   Coriell; GM12895
DR   Wikidata; Q54846202
CC   Population: Jewish.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM12895).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129303; Congenital bilateral aplasia of the vas deferens
DI   ORDO; Orphanet_48; Congenital bilateral absence of vas deferens
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   41Y
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 13
//