Generation of three induced pluripotent stem cell lines from a Parkinson's disease patient with mutant PARKIN (p. C253Y)

从患有突变型 PARKIN (p. C253Y) 的帕金森病患者体内生成三种诱导性多能干细胞系

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作者:Muqddas Tariq, Hao Liu, David P Ibañez, Yunpan Li, Shuhan Chen, Mengling Jiang, Wenxia Fan, Ping Zhao, Zhiwei Luo, Dongye Wang, Shahzina Kanwal

Abstract

Parkinson's disease (PD) is one of the most common neurodegenerative disorders and is characterized by the progressive degeneration of dopaminergic (DA) neurons in the substantia nigra. Loss of function mutations in PARK2 cause familial PD in an autosomal recessive manner. PARK2 encodes an E3 ubiquitin ligase that is involved in regulation of mitochondrial homeostasis. However, the mechanistic links between PARK2 mutations and dopaminergic neuron degeneration are unclear. Here, we have generated three patient-derived induced pluripotent stem cell (iPSC) lines from the same donor with mutant PARKIN (p. C253Y). These well characterized cell lines will facilitate the study of PARKIN function in disease relevant cell types in vitro.

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