NeuralCipher Research overview
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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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