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.

中文翻译：

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从具有突变 DJ-1/PARK7 (p.L10P) 的帕金森病患者中产生诱导多能干细胞系 (GIBHi004-A)。

PARK7基因体中发生的突变（编码 DJ-1/PARK7）导致常染色体隐性遗传早发性帕金森病 (AREP)。这些突变导致功能丧失，据报道会导致黑质中的多巴胺能神经元变性。然而，潜在的机制在很大程度上是未知的。在这里，我们报告了携带突变 DJ-1 (p.L10P) 的患者衍生的诱导多能干细胞 (iPSC) 系的产生。该细胞系是体外帕金森病 (PD) 建模和机制研究的宝贵工具。