ID   GM00701
AC   CVCL_4N06
SY   GM-701; GM 701 GM00701B; GM00701C
DR   CLO; CLO_0028896
DR   Coriell; GM00701
DR   Wikidata; Q54836398
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6986448;
RX   PubMed=29308438;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Cys681Ter (c.2043C>A) (C660X); ClinVar=VCV000003699; 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)
SX   Female
AG   6Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 10
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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).
//
RX   PubMed=29308438; DOI=10.1016/j.jacbts.2016.06.006; PMCID=PMC5753417;
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).
//