Generation of an induced pluripotent stem cell line (GIBHi003-A) from a Parkinson's disease patient with mutant PINK1 (p. I368N)

从患有 PINK1 突变(p. I368N)的帕金森病患者体内生成诱导性多能干细胞系 (GIBHi003-A)

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作者:Mazid Md Abdul, David P Ibañez, Ping Zhao, Hao Liu, Xiaofen Zhong, Yingying Li, Meng Zhang, Wenjuan Li, Yunpan Li, Carl Ward, Shuhan Chen, Dongye Wang, Baoming Qin, Miguel A Esteban, Xiwei Wang, Wenxia Fan, Zhiwei Luo

Abstract

Familial Parkinson's disease (PD) can be caused by deleterious mutations in PINK1 (encoding PINK1) in an autosomal recessive manner. Functional studies suggest that PINK1 works as a regulator of mitochondrial homeostasis. However, how loss of PINK1 induces dopaminergic neuron degeneration is still unclear. Here, we have generated a patient-derived induced pluripotent stem cell (iPSC) line with mutant PINK1 (p. I368N). This cell line will facilitate PD disease modeling in vitro and can be used for generating isogenic cell lines through gene correction.

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