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

Inigo Yoldi Bergua; Ibrahim Boussaad; Elizabet Petkovski; Zied Landoulsi; Rejko Krüger; Giuseppe Arena

doi:10.1016/j.scr.2026.103909

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

Inigo Yoldi Bergua
, Ibrahim Boussaad
, Elizabet Petkovski
, Zied Landoulsi
, Rejko Krüger^*
, Giuseppe Arena

^*Corresponding author for this work

Transversal Translational Medicine

Research output: Contribution to journal › Article › Research › peer-review

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.

Original language	English
Article number	103909
Number of pages	5
Journal	Stem Cell Research
Volume	91
Early online date	8 Jan 2026
DOIs	https://doi.org/10.1016/j.scr.2026.103909
Publication status	Published - Mar 2026

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title = "Generation and characterization of 5 induced pluripotent stem cell (iPSC) lines from Parkinson{\textquoteright}s disease patients carrying GBA1 variants",

abstract = "Parkinson{\textquoteright}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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doi = "10.1016/j.scr.2026.103909",

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T1 - Generation and characterization of 5 induced pluripotent stem cell (iPSC) lines from Parkinson’s disease patients carrying GBA1 variants

AU - Yoldi Bergua, Inigo

AU - Boussaad, Ibrahim

AU - Petkovski, Elizabet

AU - Landoulsi, Zied

AU - Krüger, Rejko

AU - Arena, Giuseppe

PY - 2026/3

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N2 - 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.

AB - 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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UR - https://pubmed.ncbi.nlm.nih.gov/41520589/

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DO - 10.1016/j.scr.2026.103909

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AN - SCOPUS:105028241712

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JO - Stem Cell Research

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ER -

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

Abstract

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