ID   GM14702
AC   CVCL_5B10
DR   CLO; CLO_0031987
DR   Coriell; GM14702
DR   Wikidata; Q54847416
CC   Sequence variation: Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Heterozygous; Note=Z allele (Coriell=GM14702).
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   43Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 14
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