Generation of induced pluripotent stem cells (iPSCs) IRMBi002-A from an Alzheimer's disease patient carrying a D694N mutation in the APP gene

Stem Cell Res. 2019 May:37:101438. doi: 10.1016/j.scr.2019.101438. Epub 2019 Apr 15.

Abstract

Induced pluripotent stem cells (iPSC) were generated from skin fibroblasts obtained from a 58 year-old woman suffering from Alzheimer's disease and carrying a D694N mutation on Amyloid precursor protein (APP). Fibroblasts were reprogrammed into iPSC using the integration-free Sendai Virus which allows the expression of the Yamanaka factors. Verification of their pluripotency was achieved by demonstrating the expression of pluripotency markers and their differentiation potential into the three primary germ layers. The cells have the corresponding mutation and present a normal karyotype. The reported APP-D694N iPSC line may be used to model and study human AD pathology in vitro.

MeSH terms

  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Amyloid beta-Protein Precursor / genetics*
  • Cell Differentiation*
  • Cells, Cultured
  • Cellular Reprogramming*
  • Female
  • Fibroblasts / metabolism
  • Fibroblasts / pathology*
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Middle Aged
  • Mutation*
  • Phenotype

Substances

  • APP protein, human
  • Amyloid beta-Protein Precursor