ID   GM18803
AC   CVCL_0N30
DR   CLO; CLO_0026225
DR   Coriell; GM18803
DR   Wikidata; Q54849858
CC   Population: Caucasian; Czechoslovakian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM18803).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Lys684Serfs*38 (c.2051_2052delAAinsG) (2183AA>G); ClinVar=VCV000035837; Zygosity=Heterozygous (Coriell=GM18803).
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   Female
AG   22Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 16
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