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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.
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-09-02 , DOI: 10.1016/j.scr.2020.101968
Taisia Rolova 1 , Ying-Chieh Wu 1 , Marja Koskuvi 2 , Jenni Voutilainen 3 , Tuuli-Maria Sonninen 3 , Johanna Kuusisto 4 , Markku Laakso 4 , Riikka H Hämäläinen 3 , Jari Koistinaho 2 , Šárka Lehtonen 2
Affiliation  

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.



中文翻译:

人类诱导的多能干细胞系(UEFi003-A)在淀粉样蛋白前体蛋白中携带杂合A673T变体的产生,与阿尔茨海默氏病的风险降低相关。

淀粉样蛋白前体蛋白(APP)中的A673T突变是罕见的变异,与晚期阿尔茨海默氏病(AD)和与年龄有关的认知能力下降的风险降低有关。A673T突变可降低体外神经元培养物β淀粉样蛋白(Aβ)的产生和聚集。在这里,我们确定了一个带有杂合性A673T突变的芬兰未患病男性,从他那里获得了皮肤活检样本,并使用可商购的无整合仙台病毒的试剂盒生成了iPSC品系。已建立的iPSC系保留了该突变,表达了多能性标记,具有正常的核型,并在体外分化为所有三个胚层。

更新日期:2020-09-02
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