ID   GM16643
AC   CVCL_BT38
DR   CLO; CLO_0017362
DR   Coriell; GM16643
DR   Wikidata; Q54848679
CC   Sequence variation: Mutation; HGNC; HGNC:3542; F5; Simple; p.Arg534Gln (c.1601G>A) (R506Q); ClinVar=VCV000000642; Zygosity=Heterozygous; Note=Factor V Leiden (Coriell=GM16643).
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu102Asp (c.306G>C) (E101D); ClinVar=VCV000015317; Zygosity=Unspecified; Note=Hb Potomac (Coriell=GM16643).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C98938; Hereditary factor V deficiency
DI   ORDO; Orphanet_326; Congenital factor V deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   34Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 14
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