• Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Glu408Lys (c.1222G>A) (E387K); ClinVar=VCV000036453; Zygosity=Homozygous (PubMed=29308438).
  

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00387
Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980)

PubMed=6986448; DOI=10.1016/S0022-2275(20)39846-1
Howard S. Kruth, Martha Vaughan;
Quantification of low density lipoprotein binding and cholesterol accumulation by single human fibroblasts using fluorescence microscopy.
J. Lipid Res. 21:123-130(1980)

PubMed=6089204; DOI=10.1073/pnas.81.17.5454; PMCID=PMC391723
David Mark Kingsley, Monty Krieger;
Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface-receptor activity.
Proc. Natl. Acad. Sci. U.S.A. 81:5454-5458(1984)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=29308438; DOI=10.1016/j.jacbts.2016.06.006; PMCID=PMC5753417
Elise F. Villard, Aurelie Thedrez, Jorg Blankenstein, Mikael Croyal, Thi-Thu-Trang Tran, Bruno Poirier, Jean-Christophe Le Bail, Stephane Illiano, Estelle Nobecourt, Michel Krempf, Dirk J. Blom ...Show all 16 authors... , A. David Marais, Philip Janiak, Anthony J. Muslin, Etienne Guillot, Gilles Lambert; Show fewer authors
PCSK9 modulates the secretion but not the cellular uptake of lipoprotein(a) ex vivo: an effect blunted by alirocumab.
JACC Basic Transl. Sci. 1:419-427(2016)