Generation of human induced pluripotent stem cell lines SPPHIi003-A and SPPHIi004-A from two patients with sporadic Alzheimer’s disease in Southwestern China

[摘要] Alzheimer's disease (AD) is the most common neurodegenerative disease in the elderly around the world as well as in China. The sporadic AD (sAD) accounts for over 95% among AD. The pathogenesis of sAD remains unclear, which leads to current failures of disease-modifying therapies. In this report, the peripheral blood mononuclear cells (PBMCs) of two clinical sAD patients in Southwestern China were reprogrammed into hiPSC lines by an episomal and non– integrating Sendai virus system. The induced sAD-hiPSC lines, SPPHIi003-A and SPPHIi004-A, were further expanded and validated for stem cell-like pluripotency, normal karyotyping, and capability of in vitro differentiation into three germ-layers. Importantly, the point mutation on microtubule associated protein tau (MAPT) gene, which encodes the tau protein and is the pivotal and hallmark lesion of AD, was discovered and confirmed in both patient’s PBMCs and hiPSCs. These newly generated sAD-hiPSC lines can sever as disease model for discovering and developing potential therapeutic targets for sAD and relevant hyperphosphorylated Tauopathies.

[学科分类] 生理学