ID   GM18801
AC   CVCL_0N28
DR   CLO; CLO_0026224
DR   Coriell; GM18801
DR   Wikidata; Q54849856
CC   Population: Caucasian; Czechoslovakian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; c.3140-26A>G (3272-26A>G); ClinVar=VCV000035864; Zygosity=Heterozygous (Coriell=GM18801).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; c.3468+2dupT (3600+2insT); ClinVar=VCV000487380; Zygosity=Heterozygous (Coriell=GM18801).
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   Age unspecified
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 13
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