ID   GM00483
AC   CVCL_7288
SY   GM-483; GM 483
DR   CLO; CLO_0003512
DR   CLO; CLO_0025954
DR   CLDB; cl1479
DR   Coriell; GM00483
DR   Wikidata; Q54836255
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6986448;
CC   Population: Caucasian; French Canadian.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Cys667Tyr (c.2000G>A) (C646Y); ClinVar=VCV000003689; Zygosity=Heterozygous (Coriell=GM00483).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_4N16 ! GM01460
SX   Female
AG   37Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 17
//
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=6986448; DOI=10.1016/S0022-2275(20)39846-1;
RA   Kruth H.S., Vaughan M.;
RT   "Quantification of low density lipoprotein binding and cholesterol
RT   accumulation by single human fibroblasts using fluorescence
RT   microscopy.";
RL   J. Lipid Res. 21:123-130(1980).
//