ID   GM07752
AC   CVCL_7474
SY   GM17278
DR   CLO; CLO_0013204
DR   CLO; CLO_0016350
DR   Coriell; GM07752
DR   Coriell; GM17278
DR   GEO; GSM569733
DR   GEO; GSM596342
DR   GEO; GSM596763
DR   GEO; GSM924880
DR   Wikidata; Q54842893
RX   CelloPub=CLPUB00447;
RX   PubMed=16244288;
CC   Part of: Human variation panel.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4886; HFE; Simple; p.Cys282Tyr (c.845G>A); ClinVar=VCV000000009; Zygosity=Heterozygous (Coriell=GM07752).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: DNA methylation analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7475 ! GM07753
SX   Male
AG   17Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 20
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
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).
//