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

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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
Coriell L.L., Greene A.E., Mulivor R.A.
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
Kruth H.S., Vaughan M.
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
Kingsley D.M., Krieger M.
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
Mulivor R.A., Suchy S.F.
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
Villard E.F., Thedrez A., Blankenstein J., Croyal M., Tran T.-T.-T., Poirier B., Le Bail J.-C., Illiano S., Nobecourt E., Krempf M., Blom D.J., Marais A.D., Janiak P., Muslin A.J., Guillot E., Lambert G.
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)