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Cellosaurus GM14652 (CVCL_5B03)

[Text version]
Cell line name GM14652
Accession CVCL_5B03
Resource Identification Initiative To cite this cell line use: GM14652 (RRID:CVCL_5B03)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4886; HFE; Simple; p.His63Asp (c.187C>G); ClinVar=VCV000000010; Zygosity=Heterozygous (Coriell=GM14652).
  • Mutation; HGNC; HGNC:4886; HFE; Simple; p.Cys282Tyr (c.845G>A); ClinVar=VCV000000009; Zygosity=Heterozygous (Coriell=GM14652).
Disease HFE-associated hereditary hemochromatosis (NCIt: C84764)
Symptomatic form of hemochromatosis type 1 (ORDO: Orphanet_465508)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 54Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14652
Cell line databases/resources CLO; CLO_0031644
Encyclopedic resources Wikidata; Q54847363
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number15