Gao Yujing, Wilson Gabrielle R, Bozaoglu Kiymet, Elefanty Andrew G, Stanley Edouard G, Dottori Mirella, Lockhart Paul J
Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, Australia.
Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, Australia; Blood Cell Development and Disease Laboratory, Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Victoria, 3052, Australia; Department of Anatomy and Developmental Biology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria, Australia.
Stem Cell Res. 2018 Apr;28:161-164. doi: 10.1016/j.scr.2018.02.015. Epub 2018 Feb 21.
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.
RAB39B基因的突变是X连锁早发性帕金森病的已知病因。利用CRISPR/Cas9基因组编辑工具构建了携带两个独立RAB39B基因缺失的同基因人类胚胎干细胞系。通过PCR和直接序列分析在两个编辑后的干细胞系中证实了缺失。两个细胞系均显示出多能性且核型正常。此外，它们能够在体外形成胚状体，并表达指示向三个胚层分化的标志物。
