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

DOI=10.5962/bhl.title.4090
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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
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J. Lipid Res. 21:123-130(1980)

PubMed=3994723; DOI=10.1016/0006-291x(85)90111-1
Joe C.O., Norman J.O., Irvin T.R., Busbee D.L.
DNA polymerase activity in a repair-deficient human cell line.
Biochem. Biophys. Res. Commun. 128:754-759(1985)

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)