Generation of a human iPSC line from a Parkinson's disease patient with a novel CHCHD2 mutation (p.R145Q)
Summary
Mutations in CHCHD2 have been reported to be associated with familial Parkinson's disease (PD). We generated a human induced pluripotent stem cell (hiPSC) line by reprogramming dermal fibroblasts from a PD patient harboring a novel CHCHD2 mutation (c.434G > A, p.R145Q). This line exhibited human embryonic stem cell (hESC)-like clonal morphology, expression of undifferentiated stem cell markers, a normal karyotype and trilineage differentiation capacity and thus the potential to serve as a model for further investigating the underlying molecular mechanisms of CHCHD2 function in PD. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Chen X, Sun J, Wang T, Tang Q, Su L, Sun Y, Chen L, Seo H, Cheng T, Wang J, Song B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103419 |
| PubMed | 38631182 |
| DOI | 10.1016/j.scr.2024.103419 |