iPSC generation and characterization of new E280G lines. (A) Representative images of iPSC lines show expression of endogenous pluripotency markers in all lines. NANOG, magenta; SSEA4, green; DAPI, blue. Scale bar represents 100 µm. (B) Karyotype stability analysis via genomic PCR. Compared with controls, a significant amplification indicated (green asterisk *) for primer pair chr17q in the E280G.A line and the red asterisk indicates significant difference for chrXp primer pair, confirming male sex of samples. (C) Sequencing reads in PSEN1 exon 8 confirm E280G SNP (A > G) in one allele, confirming heterozygous mutation in both cell lines. Red box outlines E280G SNP location.