ID   GM02000
AC   CVCL_1V08
SY   GM-2000; GM 2000; GM2000; GM02000F
DR   CLO; CLO_0032294
DR   BioSample; SAMN00807370
DR   Coriell; GM02000
DR   Wikidata; Q54837228
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6089204;
RX   PubMed=6986448;
RX   PubMed=29308438;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Glu408Lys (c.1222G>A) (E387K); ClinVar=VCV000036453; Zygosity=Homozygous (PubMed=29308438).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_CX46 ! GM01116
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 12
//
RX   CelloPub=CLPUB00387;
RA   Coriell L.L., Greene A.E., Mulivor R.A.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 7th edition. October 1980.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980).
//
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=6089204; DOI=10.1073/pnas.81.17.5454;
RA   Kingsley D.M., Krieger M.;
RT   "Receptor-mediated endocytosis of low density lipoprotein: somatic
RT   cell mutants define multiple genes required for expression of
RT   surface-receptor activity.";
RL   Proc. Natl. Acad. Sci. U.S.A. 81:5454-5458(1984).
//
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).
//
RX   PubMed=29308438; DOI=10.1016/j.jacbts.2016.06.006;
RA   Villard E.F., Thedrez A., Blankenstein J., Croyal M., Tran T.-T.-T.,
RA   Poirier B., Le Bail J.-C., Illiano S., Nobecourt E., Krempf M.,
RA   Blom D.J., Marais A.D., Janiak P., Muslin A.J., Guillot E.,
RA   Lambert G.;
RT   "PCSK9 modulates the secretion but not the cellular uptake of
RT   lipoprotein(a) ex vivo: an effect blunted by alirocumab.";
RL   JACC Basic Transl. Sci. 1:419-427(2016).
//