Generation of an induced pluripotent stem cell line (GIBHi004-A) from a Parkinson’s disease patient with mutant DJ-1/PARK7 (p.L10P)

Mutations occurring in the gene body of PARK7 (encoding DJ-1/PARK7) cause autosomal recessive early-onset parkinsonism (AREP). These mutations produce a loss of function and have been reported to lead to dopaminergic neuron degeneration in the substantia nigra. However, the underlying mechanisms are...

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Published in:Stem cell research 2020-07, Vol.46, p.101845-101845, Article 101845
Main Authors: Li, Yunpan, Ibañez, David P., Fan, Wenxia, Zhao, Ping, Chen, Shuhan, Md. Abdul, Mazid, Jiang, Yu, Fu, Lixin, Luo, Zhiwei, Liu, Zhenhua, Yang, Yueli, Guo, Jifeng, Volpe, Giacomo, Kanwal, Shahzina, Wang, Dongye, Tang, Beisha, Li, Wenjuan
Format: Article
Language:English
Subjects:
Dopamine
Dopaminergic Neurons
Humans
Induced Pluripotent Stem Cells
Parkinson Disease - genetics
Protein Deglycase DJ-1 - genetics
Substantia Nigra
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Summary:Mutations occurring in the gene body of PARK7 (encoding DJ-1/PARK7) cause autosomal recessive early-onset parkinsonism (AREP). These mutations produce a loss of function and have been reported to lead to dopaminergic neuron degeneration in the substantia nigra. However, the underlying mechanisms are largely unknown. Here, we report the generation of a patient-derived induced pluripotent stem cell (iPSC) line carrying mutant DJ-1 (p.L10P). This cell line is a valuable tool for in vitro Parkinson’s disease (PD) modeling and mechanistic studies.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2020.101845