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
Year: 2025
Type: article
Abstract: 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.
Source: Stem Cell Research
Authors: Roon Banerjee, Rituparna Ghanty, Vikram Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal, Indrani Datta
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
Award: G1605263842
OpenAlex ID: W4414804145