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从一位携带致病性 LRP10/c.688C > T(p.Arg230Trp) 突变的帕金森病患者中诱导生成多能干细胞(iPSC)系。

Generation of an induced pluripotent stem cell (iPSC) line from a Parkinson's disease patient with a pathogenic LRP10/c.688C > T(p.Arg230Trp) mutation.

机构信息

The Institute for Tissue Engineering and Regenerative Medicine/Key Laboratory of Health Commission of Shandong Province, Liaocheng. University/Liaocheng People's Hospital, Liaocheng, Shandong 252000, China.

Affiliated Yidu Central Hospital, Weifang Medical University, Weifang, Shandong 262600, China.

出版信息

Stem Cell Res. 2024 Jun;77:103359. doi: 10.1016/j.scr.2024.103359. Epub 2024 Mar 3.

Abstract

Parkinson's disease (PD) is a highly prevalent and severe neurodegenerative disease that affects more than 10 million individuals worldwide. Pathogenic mutations in LRP10 have been associated with autosomal dominant PD. Here, we report an induced pluripotent stem cell (iPSC) line generated from a PD patient harboring the LRP10 c.688C > T (p.Arg230Trp) variant. Skin fibroblasts from the PD patient were successfully reprogrammed into iPSCs that expressed pluripotency markers, a normal karyotype, and the capacity to differentiate into the three germ layers in vivo. This iPSC line is a potential resource for studying the pathogenic mechanisms of PD.

摘要

帕金森病(PD)是一种高度流行且严重的神经退行性疾病,影响着全球超过 1000 万人。LRP10 中的致病性突变与常染色体显性 PD 有关。在这里,我们报告了一种源自携带 LRP10 c.688C>T(p.Arg230Trp) 变异的 PD 患者的诱导多能干细胞 (iPSC) 系。PD 患者的皮肤成纤维细胞成功地被重编程为 iPSC,这些细胞表达多能性标志物、正常核型,并具有在体内分化为三个胚层的能力。该 iPSC 系是研究 PD 发病机制的潜在资源。

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