ID   GM18886
AC   CVCL_0N31
DR   CLO; CLO_0026242
DR   Coriell; GM18886
DR   Wikidata; Q54849903
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM18886).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Ser670_Leu671insTer (c.2012delT) (p.Leu671Terfs) (2143delT); ClinVar=VCV000035836; Zygosity=Heterozygous (Coriell=GM18886).
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   18Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 15
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