Four iPSC lines were generated from skin fibroblasts of two FAD patients with PSEN1 mutations, including one line from a patient bearing a mutation of three-nucleoside-deletion (heterozygous S169del, termed A16-iPSC-1) and three lines from another patient carrying a missense mutation (heterozygous A246E, termed A15-iPSC-2, -3, and -4, respectively) (Supplementary Figure 1a and 1b). Two previously established iPSC lines derived from fibroblasts of an unrelated normal individual were used as controls (termed N-iPSC-1 and -2) [24]. All iPSCs were generated through the infection of fibroblasts with retroviruses encoding OCT4, SOX2, KLF4 and C-MYC, displaying typical features of human pluripotent stem cells (Supplementary Figure 1c-1f). Fully reprogramming in the established iPSC lines was further validated at a global transcriptional level through mRNA microarray analyses (Supplementary Figure 1g).
