Derivation of human induced pluripotent stem cell (iPSC) line with LRRK2 gene R1398H variant in Parkinson's disease

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• 作者：Dongrui Ma^a ; Murni Tio^b ; Shin Hui Ng^b ; Li Zeng^b ; Christina Ying Yan Lim^b ; Yi Zhao^c ; Eng King Tan^a ; ^b ; ^d ;
• 刊名：Stem Cell Research
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：18
• 期：Complete
• 页码：48-50
• 全文大小：614 K
• 卷排序：18

文摘

Peripheral blood mononuclear cells (PBMCs) were collected from a clinically diagnosed 72-year old female Parkinson's disease (PD) patient with R1398H variant in the LRRK2 gene. The PMBCs were reprogrammed with the human OSKM transcription factors using the Sendai-virus reprogramming system. The transgene-free iPSC showed pluripotency confirmed by immunofluorescent staining for pluripotency markers and differentiated into the 3 germ layers in vivo. The iPSC line also showed normal karyotype. This cellular model provides a good platform for studying the mechanism of PD, and also for drug testing and gene therapy studies.