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

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 st...

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Published in:Stem cell research 2019-12, Vol.41, p.101607-101607, Article 101607
Main Authors: Abdul, Mazid Md, Ibañez, David P., Zhao, Ping, Liu, Hao, Zhong, Xiaofen, Li, Yingying, Zhang, Meng, Li, Wenjuan, Li, Yunpan, Ward, Carl, Chen, Shuhan, Wang, Dongye, Qin, Baoming, Esteban, Miguel A., Wang, Xiwei, Fan, Wenxia, Luo, Zhiwei
Format: Article
Language:English
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2019.101607