LDL receptor expression, LDL binding and uptake, and LRP6 gene expression in patients EBV-transformed B-lymphocytes. (A) LDL receptor, (B) LDL-Bodipy binding and (C) LDL-Bodipy uptake quantification in EBV-transformed B-lymphocytes from normocholesterolemic subjects (N), LDLR mutation carriers (FH), hypercholesterolemic patients without an identified mutation (FH/M-), and two LRP6-p.(Val1382Phe) carriers from the HC438 family: II-4 and III-6 (see Figure 1). The median fluorescence of living cells is presented. Data represent five independently performed assays. (D) LRP6 gene expression. Relative Quantification (RQ) of LRP6 in EBV-transformed B-lymphocytes. Reactions were run in triplicate for each cDNA. HPRT and POL2RA were used as reference genes. The relative quantification was performed using the ∆CT method. (A–D). Bonferroni’s Multiple Comparison Test in one-way ANOVA: * p < 0.05, ** p < 0.01, *** p < 0.001.