ID   GM14686
AC   CVCL_5B06
DR   CLO; CLO_0032026
DR   Coriell; GM14686
DR   Wikidata; Q54847401
CC   Sequence variation: Mutation; HGNC; HGNC:4886; HFE; Simple; p.His63Asp (c.187C>G); ClinVar=VCV000000010; Zygosity=Heterozygous (Coriell=GM14686).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84764; HFE-associated hereditary hemochromatosis
DI   ORDO; Orphanet_465508; Symptomatic form of hemochromatosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   46Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 13
//