Generation of an induced pluripotent stem cell line (GIBHi004-A) from a Parkinson’s disease patient with mutant DJ-1/PARK7 (p.L10P)
oleh: Yunpan Li, David P. Ibañez, Wenxia Fan, Ping Zhao, Shuhan Chen, Mazid Md. Abdul, Yu Jiang, Lixin Fu, Zhiwei Luo, Zhenhua Liu, Yueli Yang, Jifeng Guo, Giacomo Volpe, Shahzina Kanwal, Dongye Wang, Beisha Tang, Wenjuan Li
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2020-07-01 |
Deskripsi
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.