Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1

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Anna Fong-Yee Poon, Tong Li, Carlota Pires, Troels Tolstrup Nielsen, Jørgen Erik Nielsen, Bjørn Holst, Andras Dinnyes, Poul Hyttel, Kristine Freude

Mutations in presenilin 1 (PSEN1) lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs) derived from AD patients can be differentiated and used for disease modeling. Here, we derived hiPSC from skin fibroblasts obtained from an AD patient carrying a L282F mutation in PSEN1. We transfected skin fibroblasts with episomal iPSC reprogramming vectors targeting human OCT4, SOX2, L-MYC, KLF4, NANOG, LIN28, and short hairpin RNA against TP53. Our hiPSC line, L282F-hiPSC, displayed typical stem cell characteristics with consistent expression of pluripotency genes and the ability to differentiation into the three germ layers.

Original languageEnglish
JournalStem Cell Research
Issue number3
Pages (from-to)470-473
Number of pages4
Publication statusPublished - Nov 2016

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