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Cellosaurus GM23254 (CVCL_BA14)

[Text version]
Cell line name GM23254
Accession CVCL_BA14
Resource Identification Initiative To cite this cell line use: GM23254 (RRID:CVCL_BA14)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Ile507del (c.1516_1518ATC[1]) (c.1519_1521delATC); ClinVar=VCV000007106; Zygosity=Heterozygous (Coriell=GM23254).
  • Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM23254).
Disease Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 18Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23254
Encyclopedic resources Wikidata; Q54852939
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number14