Figure 1.

Generation of hiPSCs from a patient with type-2 long-QT syndrome. (A) Genetic screening in the patient revealed the heterozygous single-nucleotide mutation A→T in exon 13 of the KCNH2 gene, in position 2987 of the coding sequence (CDS) (c.A2987T, NM_000238.3), resulting in the substitution of an asparagine with an isoleucine at position 996 of the protein (N996I, NP_000229.1). (B) The N996I mutation (red dot) is located in the C-terminal of the HERG protein, which is made of six trans-membrane domains (S1–S6), an amino (NH2) domain, a carboxyl (COOH) domain, and a pore (P) region. (C) Example of a hiPSC colony harbouring the c.A2987T (N996I) KCNH2 mutation (LQT2-hiPSCs^N996I). Scale bar: 400 μm. (D) Immunofluorescence analysis of pluripotency markers SSEA4 (green) and NANOG (red) in a representative LQT2-hiPSC^N996I clone, with nuclear staining (DNA, blue). The image on the right is a magnification of the area framed in the left image. Scale bars: 100 μm (left image); 50 μm (right image).