Stem Cell Research
Stem Cell Research
5 years ago

Generation of induced pluripotent stem cell line (ZZUi005-A) from a 21-year-old patient with a novel RAB39B gene mutation in X-linked juvenile parkinsonism.

Han Liu, Huifang Sun, Yanlin Wang, Zhilei Wang, Mengmeng Shi, Changhe Shi, Zhihua Yang, Yuming Xu, Yutao Liu, Jing Yang, Shuo Zhang
Ras-related protein 39B (RAB39B) mutation has been reported as a potential cause of X-linked Parkinson's disease (PD), a rare form of familial PD. Recently, a novel RAB39B mutation was identified in an X-linked juvenile parkinsonism family and the dermal fibroblasts of the patient were obtained and successfully induced to induced pluripotent stem cells (iPSCs) by the human OSKM transcription factors using the Sendai-virus delivery system. Our model may offer a good platform for further research of the pathomechanism, drug testing, and gene therapy of this disease.

Publisher URL: http://doi.org/10.1016/j.scr.2017.10.021

DOI: 10.1016/j.scr.2017.10.021

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