Stem Cell Research (Jan 2019)

Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene

  • L. Auboyer,
  • C. Monzo,
  • D. Wallon,
  • A. Rovelet-Lecrux,
  • A. Gabelle,
  • I. Gazagne,
  • V. Cacheux,
  • S. Lehmann,
  • C. Crozet

Journal volume & issue
Vol. 34

Abstract

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Induced pluripotent stem cells (iPSC) were generated from skin fibroblasts obtained from a 50 year-old patient suffering from Alzheimer's disease and carrying a G217D causal mutation on presenilin 1 (PSEN1). iPSCs were obtained following reprogramming using the integration-free Sendai Virus system which allows 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. iPS cells carry the patient G217D mutation and present a normal karyotype. The reported PS1-G217D iPSC line may be used to model and study human AD pathology in vitro.