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Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1

2016; Elsevier BV; Volume: 16; Issue: 2 Linguagem: Inglês

10.1016/j.scr.2016.01.002

1876-7753

Tong Li, Carlota Pires, Troels T. Nielsen, Gunhild Waldemar, Lena E. Hjermind, Jørgen E. Nielsen, András Dinnyés, Poul Hyttel, Kristine Freude,

Biomedical Ethics and Regulation

Skin fibroblasts were obtained from a 48-year-old presymptomatic woman carrying a A79V mutation in the presenilin 1 gene (PSEN1), causing Alzheimer's disease (AD). Induced pluripotent stem cell (iPSCs) were derived via transfection with episomal vectors carrying hOCT4, hSOX2, hKLF2, hL-MYC, hLIN28 and shTP53 genes. A79V-iPSCs were free of genomically integrated reprogramming genes, had the specific mutation but no additional genomic aberrancies, expressed the expected pluripotency markers and displayed in vitro differentiation potential to the three germ layers. The reported A79V-iPSCs line may be a useful resource for in vitro modeling of familial AD.