ID   GM14715
AC   CVCL_5B13
DR   CLO; CLO_0031994
DR   Coriell; GM14715
DR   Wikidata; Q54847422
CC   Sequence variation: Mutation; HGNC; HGNC:4886; HFE; Simple; p.Cys282Tyr (c.845G>A); ClinVar=VCV000000009; Zygosity=Homozygous (Coriell=GM14715).
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   50Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 13
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