ID   GM25285
AC   CVCL_BX21
DR   Coriell; GM25285
DR   Wikidata; Q54853864
CC   Sequence variation: Mutation; HGNC; HGNC:3542; F5; Simple; p.Arg534Gln (c.1601G>A) (R506Q); ClinVar=VCV000000642; Zygosity=Heterozygous; Note=Factor V Leiden (Coriell=GM25285).
CC   Sequence variation: Mutation; HGNC; HGNC:9479; LONP1; Simple; p.Arg721Gly (c.2161C>G); ClinVar=VCV000180657; Zygosity=Homozygous (Coriell=GM25285).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126744; CODAS syndrome
DI   ORDO; Orphanet_1458; CODAS syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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