• Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Cys197Phe (c.590G>T) (C176F); ClinVar=VCV000251309; Zygosity=Heterozygous (PubMed=29308438).
  
• Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Asp304Asn (c.910G>A) (D283N); ClinVar=VCV000003692; Zygosity=Heterozygous (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)

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=3994723; DOI=10.1016/0006-291x(85)90111-1
Cheol O. Joe, James O. Norman, Thomas Rick Irvin, David L. Busbee;
DNA polymerase activity in a repair-deficient human cell line.
Biochem. Biophys. Res. Commun. 128:754-759(1985)

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)