Generation and characterization of 5 induced pluripotent stem cell (iPSC) lines from Parkinson’s disease patients carrying GBA1 variants

Stem Cell Research 2026 Open access

Read full text
Authors: Iñigo Yoldi Bergua, Ibrahim Boussaad, Elizabet Petkovski, Zied Landoulsi, Rejko Krüger, Giuseppe Arena
DOI: 10.1016/j.scr.2026.103909
Cited by: 1
References: 3

Abstract

Parkinson's disease (PD) patients carrying variants in GBA1 exhibit distinct phenotypic characteristics of disease, including earlier age at onset, faster motor decline and higher frequency of cognitive decline. As carriers of GBA1 define a relevant PD subgroup and in order to prepare for future precision medicine approaches to treat GBA1-mediated PD, we generated 5 induced pluripotent stem cell (iPSC) lines from primary skin fibroblasts of PD patients, each carrying a heterozygous variant in GBA1 (p.L483P; p.L483P; p.G241R; p.N409S; p.N409S). iPSCs pluripotency was confirmed by qPCR and immunocytochemistry, and their ability to differentiate into the 3 germ layers was validated.

Fields of Study & Subjects

Lysosomal Storage Disorders Research Pancreatic function and diabetes Pluripotent Stem Cells Research

Publication details

Journal / source
Stem Cell Research
Publisher
Elsevier BV
Volume
91
Pages
103909–103909
Publication date
8 January 2026
Language
EN