ID   2CFSMEo-/6REP-CFTR
AC   CVCL_B4IB
DR   Wikidata; Q110429747
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Gln2Ter (c.4C>T); ClinVar=VCV000053980; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection; Gene=HGNC; HGNC:1884; CFTR.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
CC   Derived from site: In situ; Lung, bronchus, submucosal gland; UBERON=UBERON_8410043.
CC   Cell type: Epithelial cell of bronchus; CL=CL_0002328.
DI   NCIt; C2975; Cystic fibrosis
DI   ORDO; Orphanet_586; Cystic fibrosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_IN60 ! 2CFSMEo-
SX   Sex unspecified
AG   Age unspecified
CA   Transformed cell line
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 8
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