Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease

建立 RAB39B 敲除同源人类胚胎干细胞系,模拟 RAB39B 介导的帕金森病

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作者:Yujing Gao, Gabrielle R Wilson, Kiymet Bozaoglu, Andrew G Elefanty, Edouard G Stanley, Mirella Dottori, Paul J Lockhart

Abstract

Mutations in RAB39B are a known cause of X-linked early onset Parkinson's disease. Isogenic human embryonic stem cell lines carrying two independent deletions of RAB39B were generated using CRISPR/Cas9 genome editing tool. The deletions were confirmed by PCR and direct sequence analysis in two edited stem cell lines. Both cell lines showed pluripotency and displayed a normal karyotype. Further, they were able to form embryoid bodies in vitro, and express markers indicative of differentiation to the three germ layers.

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