Generation and characterization of induced pluripotent stem cell lines from one Parkinson’s disease patient carrying the GBA1 T369M variant and two variant-free controls

The p.Thr369Met variant in the glucosylcerebrosidase Beta I gene (GBA1) is associated with Parkinson disease (PD) but its impact is debated. We generated and characterized human induced pluripotent stem cells from PBMCs of three PD patients: one carrying the p.Thr369Met variant in GBA1, and two carrying no GBA1 variants. These lines exhibited typical pluripotent stem cell morphology, expressed pluripotency markers, and displayed normal karyotypes. All lines were transgene-free and capable of in vitro differentiation into the three germ layers. These iPSC lines provide tools to investigate p.Thr369Met variant-specific PD mechanisms and contribute to the development and refinement of targeted therapeutics.

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Publication Details

Journal
Stem Cell Research
Published
2026-04-01
DOI
https://doi.org/10.1016/j.scr.2026.103983
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Generation and characterization of induced pluripotent stem cell lines from one Parkinson’s disease patient carrying the GBA1 T369M variant and two variant-free controls

Teus van Laar, Hermie J.M. Harmsen, Sofie Slingerland, Sven CD van Ijzendoorn et al.
Stem Cell Research
Lysosomal Storage Disorders Research
article

Generation and characterization of induced pluripotent stem cell lines from one Parkinson’s disease patient carrying the GBA1 T369M variant and two variant-free controls

Teus van Laar, Hermie J.M. Harmsen, Sofie Slingerland, Sven CD van Ijzendoorn, Mahya Hosseini Bondarabadi, Jim de Leeuw, Mingqian Xu, Iris Sommer
article en

Abstract

The p.Thr369Met variant in the glucosylcerebrosidase Beta I gene (GBA1) is associated with Parkinson disease (PD) but its impact is debated. We generated and characterized human induced pluripotent stem cells from PBMCs of three PD patients: one carrying the p.Thr369Met variant in GBA1, and two carrying no GBA1 variants. These lines exhibited typical pluripotent stem cell morphology, expressed pluripotency markers, and displayed normal karyotypes. All lines were transgene-free and capable of in vitro differentiation into the three germ layers. These iPSC lines provide tools to investigate p.Thr369Met variant-specific PD mechanisms and contribute to the development and refinement of targeted therapeutics.

Stem Cell ResearchVol. 93
University Medical Center Groningen (NL)
Hersenstichting
Good health and well-being
Openalex Percentile: Top 34%
Lysosomal Storage Disorders Research
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