ID   GM01460
AC   CVCL_4N16
SY   GM-1460; GM01460A
DR   CLO; CLO_0030878
DR   Coriell; GM01460
DR   Wikidata; Q54836845
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=12406975;
CC   Population: Caucasian; French Canadian.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Cys667Tyr (c.2000G>A) (C646Y); ClinVar=VCV000003689; Zygosity=Heterozygous (Coriell=GM01460).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7288 ! GM00483
SX   Female
AG   38Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 16
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=12406975; DOI=10.1093/clinchem/48.11.1913;
RA   Bodamer O.A., Bercovich D., Schlabach M., Ballantyne C., Zoch D.,
RA   Beaudet A.L.;
RT   "Use of denaturing HPLC to provide efficient detection of mutations
RT   causing familial hypercholesterolemia.";
RL   Clin. Chem. 48:1913-1918(2002).
//