从患有线粒体脑肌病、乳酸酸中毒和类似中风发作的患者中建立无变体 iPSC（UOMi003-A）系。
Establishment of variant free-iPSC (UOMi003-A) line from patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.
机构信息
Institute of Cardiovascular Sciences, St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada.
Institute of Cardiovascular Sciences, St. Boniface Hospital Albrechtsen Research Centre, Regenerative Medicine Program, Department of Physiology and Pathophysiology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Canada.
出版信息
Stem Cell Res. 2020 Oct;48:101935. doi: 10.1016/j.scr.2020.101935. Epub 2020 Aug 3.
Heteroplasmy in patients affected with Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) offers a chance to harvest specific cells which might have a very low or no mutation load of the mitochondrial DNA. Here we demonstrate establishment of induced pluripotent stem cells (iPSC) cell lines (with normal mitochondrial DNA copies), from unaffected tissues of a male patient with MELAS harbouring m.3243A > G mutations. This platform allowed us to compare specific pathway differences between the cells of the affected tissues of the patients and their isogenic counterparts derived from iPSCs, which do not harbour the mutations.
患者的异质性在患有线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）中提供了一个机会来收获特定的细胞，这些细胞可能具有非常低或没有线粒体 DNA 的突变负荷。在这里，我们展示了从患有 MELAS 的男性患者的未受影响的组织中建立诱导多能干细胞 (iPSC) 细胞系（具有正常线粒体 DNA 拷贝），该患者携带 m.3243A > G 突变。该平台使我们能够比较患者受影响组织的细胞与其源自 iPSC 的同基因对应物之间的特定途径差异，这些细胞不携带突变。
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