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

This study was approved by the medical research ethics committee of the First Affiliated Hospital of Zhengzhou University (NO. 2016-007).Resource utilityCHCHD2 mutation has been shown to be associated with Parkinson's disease (PD) (Shi et al., 2016). Induced pluripotent stem cells (iPSCs), generated from a patient harboring a CHCHD2 mutation, may provide an ideal cell model for exploring the pathogenesis of this disease and aid in drug screening.Resource detailsParkinson'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;...
Source: Stem Cell Research - Category: Stem Cells Source Type: research