Article
Generation of patient-derived pluripotent stem cell-lines and CRISPR modified isogenic controls with mutations in the Parkinson's associated GBA gene.
Stem cell research - 1 Oct 2022
X-Q Chen Carol, Deneault Eric, Abdian Narges, You Zhipeng, Sirois Julien, Nicouleau Michael, Shlaifer Irina, Villegas Lorenza, Boivin Marie-Noëlle, Gaborieau Lydiane, Karamchandani Jason, Beitel Lenore K, Fon Edward A, Durcan Thomas M
Abstract excerpt
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...
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