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Generation and characterization of two human induced pluripotent stem cell (hiPSC) lines homozygous for the Apolipoprotein e4 (APOE4) risk variant—Alzheimers disease (ASUi005-A) and healthy non-demented control (ASUI006-A)

机译:载脂蛋白e4(APOE4)风险变体-阿尔茨海默氏病(ASUi005-A)和健康无痴呆对照(ASUI006-A)纯合的两种人诱导多能干细胞(hiPSC)系的生成和表征

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摘要

Although the majority of late-onset Alzheimer's disease (AD) patients are labeled sporadic, multiple genetic risk variants have been identified, the most powerful and prevalent of which is the e4 variant of the Apolipoprotein E (APOE) gene. Here, we generated human induced pluripotent stem cell (hiPSC) lines from the peripheral blood mononuclear cells (PBMCs) of a clinically diagnosed AD patient [ASUi005-A] and a non-demented control (NDC) patient [ASUi006-A] homozygous for the APOE4 risk allele. These hiPSCs maintained their original genotype, expressed pluripotency markers, exhibited a normal karyotype, and retained the ability to differentiate into cells representative of the three germ layers.
机译:尽管大多数晚期阿尔茨海默氏病(AD)患者被标记为散发性疾病,但已鉴定出多种遗传风险变异体,其中最有效和普遍的是载脂蛋白E(APOE)基因的e4变异体。在这里,我们从临床确诊的AD患者[ASUi005-A]和非痴呆对照(NDC)患者[ASUi006-A]纯合的人外周血单核细胞(PBMC)中生成了人诱导的多能干细胞(hiPSC)系, APOE4风险等位基因。这些hiPSC保持其原始基因型,表达多能性标记,表现出正常的核型,并保留分化为代表三个胚层的细胞的能力。

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