Mutations in leucine-rich repeat kinase 2 (LRRK2) gene (LRRK2 G2019S) is a representative autosomal dominant mutation that can cause Parkinson's disease (PD). A bacterial artificial chromosome-based homologous recombination (BAC-based HR) system was utilized for gene therapy of LRRK2 G2019S-mutant induced pluripotent stem cells (iPSCs) produced by reprogramming episomal vectors. The gene-corrected iPSCs retained typical pluripotency required for their spontaneous differentiation into differentiated cells. The iPSCs had a normal karyotype and were confirmed to have no off-target sites by melting curve analysis.

中文翻译：

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使用基于BAC的同源重组从帕金森氏病患者iPSC产生具有LRRK2 G2019S突变的基因校正的iPSC系KIOMi002-A。

富含亮氨酸的重复激酶2（LRRK2）基因（LRRK2 G2019S）中的突变是一种典型的常染色体显性突变，可导致帕金森氏病（PD）。基于细菌人工染色体的同源重组（基于BAC的HR）系统被用于通过重编程附加型载体而产生的LRRK2 G2019S突变型诱导多能干细胞（iPSC）的基因治疗。经过基因校正的iPSC保留了自发分化为分化细胞所需的典型多能性。iPSC具有正常的核型，并且通过解链曲线分析确认没有靶外位点。