ID   GM07227
AC   CVCL_0M43
SY   GM07227A
DR   CLO; CLO_0035916
DR   Coriell; GM07227
DR   Wikidata; Q54842593
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Unspecified (from familial inference of GM07224).
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   6Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 12
//