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

Stem Cell Res. 2016 Nov;17(3):470-473. doi: 10.1016/j.scr.2016.09.016. Epub 2016 Sep 28.

Abstract

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.

MeSH terms

  • Alzheimer Disease / genetics
  • Alzheimer Disease / pathology*
  • Base Sequence
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Embryoid Bodies / cytology
  • Embryoid Bodies / metabolism
  • Fibroblasts / cytology
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Karyotype
  • Kruppel-Like Factor 4
  • Male
  • Microscopy, Fluorescence
  • Polymorphism, Single Nucleotide
  • Presenilin-1 / genetics*
  • RNA Interference
  • RNA, Small Interfering / metabolism
  • Sequence Analysis, DNA
  • Skin / cytology
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Tumor Suppressor Protein p53 / antagonists & inhibitors
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / metabolism

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Presenilin-1
  • RNA, Small Interfering
  • TP53 protein, human
  • Transcription Factors
  • Tumor Suppressor Protein p53