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

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.

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Publication Details

Journal
Stem Cell Research
Published
2026-01-08
DOI
https://doi.org/10.1016/j.scr.2026.103909
Primary Topic
Lysosomal Storage Disorders Research
Type
article
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article

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

Giuseppe Arena, Elizabet Petkovski, Iñigo Yoldi Bergua, Rejko Krüger et al.
Stem Cell Research
Lysosomal Storage Disorders Research
article

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

Giuseppe Arena, Elizabet Petkovski, Iñigo Yoldi Bergua, Rejko Krüger, Ibrahim Boussaad, Zied Landoulsi
article en

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.

Stem Cell ResearchVol. 91
Centre Hospitalier de Luxembourg (LU), University of Luxembourg (LU), Luxembourg Institute of Health (LU), Laboratoire National de Santé (LU)
Good health and well-being
Openalex Percentile: Top 93%
Lysosomal Storage Disorders Research
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Generation and characterization of 5 induced pluripotent stem cell (iPSC) lines from Parkinson’s disease patients carrying GBA1 variants — Giuseppe Arena, Elizabet Petkovski, et al. · Stem Cell Research (2026) | TGRS Research Map | TGRS