Fig. 1.

FH-iPSCs recapitulate FH phenotype in vitro. a DNA sequences depicting the mutated nucleotide g.10891C>T (c.97C->T, p.Q12X) in the LDLR exon 2 in FH-patient’s fibroblasts and iPSCs by contrast to normal human fibroblasts (Ctl). b Western blot analysis confirming the absence of LDLR protein in FH-iPSCs. c Representative confocal pictures of Dil-LDL internalization in ctl and FH-fibroblasts and in ctl and FH-iPSCs. Nuclei were counterstained with DAPI. Scale bar 50 μm