• Mutation; HGNC; 6547; LDLR; Simple; p.Cys667Tyr (c.2000G>A) (C646Y); ClinVar=VCV000003689; 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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

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)

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

PubMed=29308438; DOI=10.1016/j.jacbts.2016.06.006
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)