ID   GM14650
AC   CVCL_5B01
DR   CLO; CLO_0031646
DR   Coriell; GM14650
DR   Wikidata; Q54847361
CC   Sequence variation: Mutation; HGNC; HGNC:3542; F5; Simple; p.Arg534Gln (c.1601G>A) (R506Q); ClinVar=VCV000000642; Zygosity=Heterozygous; Note=Factor V Leiden (Coriell=GM14650).
CC   Sequence variation: Mutation; HGNC; HGNC:4886; HFE; Simple; p.His63Asp (c.187C>G); ClinVar=VCV000000010; Zygosity=Heterozygous (Coriell=GM14650).
CC   Sequence variation: Mutation; HGNC; HGNC:4886; HFE; Simple; p.Cys282Tyr (c.845G>A); ClinVar=VCV000000009; Zygosity=Heterozygous (Coriell=GM14650).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   21Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 14
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