Generation of an induced pluripotent stem cell line (HMSCATi004-A) from an early onset Parkinson's disease patient with PRKN gene mutation
Summary
Parkin (PRKN) is recognized as causative gene in early-onset Parkinson's disease (PD). Induced pluripotent stem cells (iPSCs) were derived from a 29-year-old PD patient carrying a heterozygous c.823C > T (p.R275W) variant and an exon 2-4 deletion in PRKN. The Generated iPSCs maintain a normal karyotype, express pluripotency markers, and retain the ability to differentiate into the three germ layers. This iPSC line serves as a valuable cellular model for investigating the pathogenesis of early-onset PD and development of potential therapeutic interventions. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Cheng J, Zhai Y, Guo X, Wang X, Ma M, Ren X, Wang S, Cui H, Ren Q |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103578 |
| PubMed | 39405989 |
| DOI | 10.1016/j.scr.2024.103578 |