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Cellosaurus GM14631 (CVCL_5A99)

[Text version]
Cell line name GM14631
Accession CVCL_5A99
Resource Identification Initiative To cite this cell line use: GM14631 (RRID:CVCL_5A99)
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.Cys282Tyr (c.845G>A); ClinVar=VCV000000009; Zygosity=Homozygous (Coriell=GM14631).
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 Female
Age at sampling 49Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14631
Cell line databases/resources CLO; CLO_0031679
Encyclopedic resources Wikidata; Q54847347
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number13