ID   GM14631
AC   CVCL_5A99
DR   CLO; CLO_0031679
DR   Coriell; GM14631
DR   Wikidata; Q54847347
CC   Sequence variation: Mutation; HGNC; HGNC:4886; HFE; Simple; p.Cys282Tyr (c.845G>A); ClinVar=VCV000000009; Zygosity=Homozygous (Coriell=GM14631).
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   Female
AG   49Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 13
//