ID   GM20932
AC   CVCL_0N43
DR   CLO; CLO_0015369
DR   Coriell; GM20932
DR   Wikidata; Q54851479
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Ser549Asn (c.1646G>A); ClinVar=VCV000007116; Zygosity=Heterozygous (Coriell=GM20932).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
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