Generation of induced pluripotent stem cells (NIMHi018-A) from a Parkinson's disease patient harbouring a heterozygous missense mutation for PINK1 variant c.1208G > A, p.Trp403Ter
Summary
The PTEN-induced kinase 1 (PINK1) gene mutation is the second most prevalent young-onset Parkinson disease (YOPD) characterized by early onset of motor symptoms that are often indistinguishable from other causes of PD. Induced pluripotent stem cells (iPSCs) were derived from peripheral blood mononuclear cells of a PD patient with PINK1 variant c.1208G > A, p.Trp403Ter using Sendai-virus reprogramming. PD diagnosis was confirmed via the Unified Parkinson's Disease Rating Scale (UPDRS). Characterization of the iPSC line ensured self-renewal and pluripotency. This resource serves as a valuable platform for drug screening and elucidating the pathophysiology of this mutation, facilitating advancements in PD research. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Banerjee R, Ghanty R, Holla V, Kamble N, Yadav R, Pal PK, Datta I |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Oct 2;89:103849 |
| PubMed | 41075512 |
| DOI | 10.1016/j.scr.2025.103849 |