Production of a human iPSC line from an early-onset Parkinson's disease patient with a novel CHCHD2 gene truncated mutation
Summary
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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Jiang Z, Gu XJ, Su WM, Duan QQ, Lin JY, Cao B, Shang HF, Chen YP |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Oct;64:102881 |
| PubMed | 35944313 |
| DOI | 10.1016/j.scr.2022.102881 |