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SCIENTIFIC LITERATURE · MED

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

Stem Cell Res · 2026-01-08

DOI: 10.1016/j.scr.2026.103909PMID: 41520589

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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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