Generation of induced pluripotent stem cell line (ZZUi007-A) from a 52-year-old patient with a novel CHCHD2 gene mutation in Parkinson's disease

Parkinson's disease (PD) is one of the most common neurodegenerative disorders, characterized by resting tremors, muscular rigidity, bradykinesia, and postural instability. Previous studies have revealed that parkinsonism can be caused by mutations in several genes including parkin, PTEN-induced putative kinase protein 1 (PINK1), parkinsonism-associated deglycase (DJ1), and ATPase 13A2 (ATP13A2) (Bonifati, 2014). In this study, a novel CHCHD2 mutation was identified in a family with Parkinson's disease (Shi et al., 2016), and the fibroblasts of the patient were successfully transformed into iPSCs. Episomal plasmids were used to generate the ZZUi007-A iPSC line (Fig. 1A). Pluripotency markers were examined via immunocytochemical staining using antibodies against human OCT-4, TRA-1-60 and Nanog (Fig. 1B). Flow cytometric analysis showed that more than 99% of the cells expressed OCT-4 and TRA-1-60 (Fig. 1C). The karyotype of CHCHD2-01 iPSCs was numerically and structurally normal (Fig. 1D). The mutation (c.182C > T; p.Thr61Ile) in CHCHD2 was confirmed by Sanger sequencing in the newly established iPSC line (Fig. 1E). Episomal plasmids were detected by polymerase chain reaction (PCR) using episomal plasmid-specific primers and disappeared from passage 15 (Fig. 1F). Furthermore, the iPSC line had the potential to differentiate into cells of all three germ layers in vivo (Fig. 1G).