Generation of an integration-free iPSC line, ICCSICi006-A, derived from a male Alzheimer's disease patient carrying the PSEN1-G206D mutation

Stem Cell Res. 2019 Oct;40:101574. doi: 10.1016/j.scr.2019.101574. Epub 2019 Sep 10.

Abstract

The familial form of Alzheimer's disease (FAD), which is caused by mutations in PRESENILIN 1 (PSEN1) and amyloid precursor protein (APP) genes, represents less than 5% of all AD cases and has an early-onset. We report the generation and characterization of an iPSC line derived from a FAD patient carrying the PSEN1-G206D mutation. The iPSC line maintained the original genotype, a normal karyotype, was free from Sendai viral vectors and reprogramming factors (OCT4, SOX2, KLF4 and c-MYC), presented a typical morphology, expressed endogenous pluripotency markers, and could be differentiated into ectodermal, mesodermal and endodermal cells, confirming its pluripotency.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / metabolism
  • Cell Differentiation
  • Cell Line / cytology*
  • Cell Line / metabolism
  • Cells, Cultured
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Male
  • Mutation, Missense
  • Presenilin-1 / genetics*
  • Presenilin-1 / metabolism
  • Sendai virus / genetics
  • Sendai virus / physiology
  • Virus Integration

Substances

  • PSEN1 protein, human
  • Presenilin-1