ID   GM03401
AC   CVCL_0M20
DR   CLO; CLO_0016335
DR   BioSample; SAMN00808395
DR   Coriell; GM03401
DR   Wikidata; Q54838052
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM03401).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Trp1282Ter (c.3846G>A); ClinVar=VCV000007129; Zygosity=Heterozygous (Coriell=GM03401).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 13
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