Stem Cell Research (Oct 2020)

Generation of a human induced pluripotent stem cell line (UEFi003-A) carrying heterozygous A673T variant in amyloid precursor protein associated with a reduced risk of Alzheimer’s disease

  • Taisia Rolova,
  • Ying-Chieh Wu,
  • Marja Koskuvi,
  • Jenni Voutilainen,
  • Tuuli-Maria Sonninen,
  • Johanna Kuusisto,
  • Markku Laakso,
  • Riikka H. Hämäläinen,
  • Jari Koistinaho,
  • Šárka Lehtonen

Journal volume & issue
Vol. 48
p. 101968

Abstract

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A673T mutation in the amyloid precursor protein (APP) is a rare variant associated with a reduced risk of late-onset Alzheimer‘s disease (AD) and age-related cognitive decline. The A673T mutation decreases beta-amyloid (Aβ) production and aggregation in neuronal cultures in vitro. Here we have identified a Finnish non-diseased male individual carrying a heterozygous A673T mutation, obtained a skin biopsy sample from him, and generated an iPSC line using commercially available integration-free Sendai virus-based kit. The established iPSC line retained the mutation, expressed pluripotency markers, had a normal karyotype, and differentiated into all three germ layers in vitro.