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


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Rolova T, Wu YC, Koskuvi M, Voutilainen J, Sonninen TM, Kuusisto J, Laakso M, Hämäläinen RH, Koistinaho J, Lehtonen Š
Journal Stem cell research
Publication Date 2020 Oct;48:101968
PubMed 32911327
DOI 10.1016/j.scr.2020.101968

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