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

被引：2

作者：

Chen, Carol X-Q ^{[1
]}

Deneault, Eric ^{[1
]}

Abdian, Narges ^{[1
]}

You, Zhipeng ^{[1
]}

Sirois, Julien ^{[1
]}

Nicouleau, Michael ^{[1
]}

Shlaifer, Irina ^{[1
]}

Villegas, Lorenza ^{[1
]}

Boivin, Marie-Noelle ^{[2
]}

Gaborieau, Lydiane ^{[2
]}

Karamchandani, Jason ^{[2
]}

Beitel, Lenore K. ^{[1
]}

Fon, Edward A. ^{[1
]}

Durcan, Thomas M. ^{[1
]}

机构：

[1] McGill Univ, Neuros Early Drug Discovery Unit EDDU, 3801 Univ St, Montreal, PQ H3A 2B4, Canada

[2] McGill Univ, Montreal Neurol Inst Hosp, C BIG Biorepository C BIG, Montreal, PQ H3A 2B4, Canada

来源：

STEM CELL RESEARCH | 2022年 / 64卷

关键词：

D O I：

10.1016/j.scr.2022.102919

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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.

引用

页数：6

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