ID   GM16000
AC   CVCL_W239
SY   GM 16000
DR   CLO; CLO_0018708
DR   BCRJ; 0327
DR   Coriell; GM16000
DR   Wikidata; Q54848293
RX   PubMed=16244288;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3535; F2; Simple; c.*97G>A (20210G>A); ClinVar=VCV000013310; Zygosity=Heterozygous (Coriell=GM16000).
CC   Sequence variation: Mutation; HGNC; HGNC:4886; HFE; Simple; p.His63Asp (c.187C>G); ClinVar=VCV000000010; Zygosity=Heterozygous (Coriell=GM16000).
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Heterozygous (Coriell=GM16000).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26799; Hereditary factor II deficiency
DI   ORDO; Orphanet_325; Congenital factor II deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   33Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 16
//
RX   PubMed=16244288; DOI=10.1373/clinchem.2005.048686;
RA   Bernacki S.H., Beck J.C., Muralidharan K., Schaefer F.V.,
RA   Shrimpton A.E., Richie K.L., Levin B.C., Pont-Kingdon G.,
RA   Stenzel T.T.;
RT   "Characterization of publicly available lymphoblastoid cell lines for
RT   disease-associated mutations in 11 genes.";
RL   Clin. Chem. 51:2156-2159(2005).
//