Production of a human iPSC line from an early-onset Parkinson’s disease patient with a novel CHCHD2 gene truncated mutation
oleh: Zheng Jiang, Xiao-Jing Gu, Wei-Ming Su, Qing-Qing Duan, Jun-Yu Lin, Bei Cao, Hui-Fang Shang, Yong-Ping Chen
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2022-10-01 |
Deskripsi
CHCHD2 mutations have been reported to cause Parkinson’s disease (PD) by a loss of function in mitochondria. Most reported mutations, however, were missense, which was not the perfect model for a study of haploinsufficiency. Here, a truncated mutation, CHCHD2 p.Pro53Alafs*38, was identified in one familial early-onset PD patient. We generated a human-induced pluripotent stem cell (iPSC) line WCHSCUi001-A from this patient. The generated iPSCs resembled human embryonic stem cells, expressed pluripotency markers, exhibited a normal karyotype and could be differentiated into three germ layers in vitro. This line will be valuable for investigating the disease mechanisms and screening candidate drugs.