4.2 Article

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

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STEM CELL RESEARCH
卷 48, 期 -, 页码 -

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ELSEVIER
DOI: 10.1016/j.scr.2020.101968

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  1. Austria, Federal Ministry of Science, Research and Economy (BMWFW)
  2. Finland, Suomen Akatemia
  3. France, Agence National de la Recherche
  4. Germany, Bundesministerium fur Bildung und Forschung
  5. Portugal, Fundacao para a Ciencia e a Tecnologia
  6. Sweden, Vetenskapsradet
  7. European Union [813294]

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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 (A beta) 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.

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