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.

Autor:	Rolova T; Neuroscience Center, University of Helsinki, Helsinki, Finland., Wu YC; Neuroscience Center, University of Helsinki, Helsinki, Finland., Koskuvi M; Neuroscience Center, University of Helsinki, Helsinki, Finland; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland., Voutilainen J; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland., Sonninen TM; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland., Kuusisto J; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio University Hospital, Kuopio, Finland., Laakso M; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio University Hospital, Kuopio, Finland., Hämäläinen RH; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland., Koistinaho J; Neuroscience Center, University of Helsinki, Helsinki, Finland; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland., Lehtonen Š; Neuroscience Center, University of Helsinki, Helsinki, Finland; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland. Electronic address: sarka.lehtonen@uef.fi.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2020 Oct; Vol. 48, pp. 101968. Date of Electronic Publication: 2020 Sep 02.
DOI:	10.1016/j.scr.2020.101968
Abstrakt:	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. Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu