ID   GM14641
AC   CVCL_N218
SY   GM 14641; GM18064
DR   CLO; CLO_0015693
DR   CLO; CLO_0031620
DR   Coriell; GM14641
DR   Coriell; GM18064
DR   Wikidata; Q54847356
RX   PubMed=16244288;
CC   Part of: Human variation panel.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3542; F5; Simple; p.Arg534Gln (c.1601G>A) (R506Q); ClinVar=VCV000000642; Zygosity=Heterozygous; Note=Factor V Leiden (Coriell=GM18064).
CC   Sequence variation: Mutation; HGNC; 4886; HFE; Simple; p.His63Asp (c.187C>G); ClinVar=VCV000000010; Zygosity=Heterozygous (Coriell=GM18064).
CC   Sequence variation: Mutation; HGNC; 4886; HFE; Simple; p.Cys282Tyr (c.845G>A); ClinVar=VCV000000009; Zygosity=Heterozygous (Coriell=GM18064).
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   47Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 19
//
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).
//