Generation of patient-derived pluripotent stem cell-lines and CRISPR modified isogenic controls with mutations in the Parkinson's associated GBA gene


The GBA gene encodes the lysosomal enzyme glucocerebrosidase (GCase), responsible for the hydrolysis of glucocerebroside to glucose and ceramide. Heterozygous GBA mutations have been associated with the development of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). We generated two induced pluripotent stem cell (iPSC) lines from PD patients carrying heterozygous GBA W378G or N370S mutations and subsequently produced isogenic control lines using CRISPR/Cas9 genome editing. The patient-derived iPSCs and isogenic control lines maintained full pluripotency, normal karyotypes, and differentiation capacity. All iPSC lines could be differentiated into dopaminergic neurons, thus providing valuable tools for studying PD pathogenesis. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors X-Q Chen C, Deneault E, Abdian N, You Z, Sirois J, Nicouleau M, Shlaifer I, Villegas L, Boivin MN, Gaborieau L, Karamchandani J, Beitel LK, Fon EA, Durcan TM
Journal Stem cell research
Publication Date 2022 Oct;64:102919
PubMed 36130446
DOI 10.1016/j.scr.2022.102919

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