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 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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Li Y, Ibañez DP, Fan W, Zhao P, Chen S, Md Abdul M, Jiang Y, Fu L, Luo Z, Liu Z, Yang Y, Guo J, Volpe G, Kanwal S, Wang D, Tang B, Li W
Journal Stem cell research
Publication Date 2020 Jul;46:101845
PubMed 32534165
DOI 10.1016/j.scr.2020.101845

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