RESEARCH PAPER
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.
AI Summary
The authors generated and characterized transgene-free iPSC lines from a Parkinson's patient carrying the GBA1 p.Thr369Met variant and two variant-free controls, confirming pluripotency, normal karyotype, and tri-lineage differentiation capability.
Why It Matters
These validated patient-specific iPSC lines provide a relevant human cellular platform to study GBA1-linked lysosomal dysfunction and alpha-synuclein mechanisms and to support target validation and screening of GBA1- or lysosome-directed therapeutics.
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.
