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.
Bondarabadi et al. (Wed,) studied this question.
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