Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1

Stem Cell Res. 2016 Jan;16(1):110-2. doi: 10.1016/j.scr.2015.12.015. Epub 2015 Dec 28.

Abstract

Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts isolated from a 58-year old male with a L150P mutation in the presenilin 1 (PSEN-1) gene, which is responsible for the majority of familial cases of Alzheimer's disease (AD). The iPSCs were established by co-electroporation with episomal plasmids containing hOCT4, hSOX2, hL-MYC, hKLF4, hNANOG, hLIN28, and short hairpin RNA against TP53. The iPSCs contained the specific heterozygous mutation c.449C>T, had normal karyotype, expressed the expected pluripotency genes and displayed in vitro differentiation potential to the three germ layers. The iPSCs may be useful for studying familial AD pathology in vitro.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / metabolism
  • Alzheimer Disease / pathology*
  • Base Sequence
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • DNA Mutational Analysis
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Karyotype
  • Male
  • Microscopy, Fluorescence
  • Middle Aged
  • Plasmids / metabolism
  • Polymorphism, Single Nucleotide
  • Presenilin-1 / genetics*
  • RNA, Small Interfering / metabolism
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Transfection
  • Tumor Suppressor Protein p53 / antagonists & inhibitors
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / metabolism

Substances

  • Presenilin-1
  • RNA, Small Interfering
  • TP53 protein, human
  • Transcription Factors
  • Tumor Suppressor Protein p53