Generation of a human induced pluripotent stem cell line from a patient with a rare A673T variant in amyloid precursor protein gene that reduces the risk for Alzheimer's disease

从一名携带淀粉样前体蛋白基因罕见 A673T 变异的患者体内生成人类诱导性多能干细胞系,从而降低罹患阿尔茨海默病的风险

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作者:Šárka Lehtonen, Ida Höytyläinen, Jenni Voutilainen, Tuuli-Maria Sonninen, Johanna Kuusisto, Markku Laakso, Riikka H Hämäläinen, Minna Oksanen, Jari Koistinaho

Abstract

An amyloid precursor protein (APP) A673T mutation was found to be protective against Alzheimer's disease (AD) and cognitive decline in the Icelandic population and to associate with decreased levels of plasma β-amyloid in a Finnish population-based cohort. Human fibroblasts from a Finnish male individual carrying the protective mutation were used to generate integration-free induced pluripotent stem cell (iPSCs) line by Sendai virus technology. The iPSC line retained the mutation and expressed pluripotency markers, had a normal karyotype and differentiated into all three germ layers.

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