人诱导多能干细胞（hiPSC）系 UOMi006-A 源自 Kearns-Sayre 综合征患者的 PBMCs。
Human induced pluripotent stem cell (hiPSC) line UOMi006-A derived from PBMCs of a patient with Kearns-Sayre syndrome.
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, Canada.
Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Canada.
出版信息
Stem Cell Res. 2021 May;53:102355. doi: 10.1016/j.scr.2021.102355. Epub 2021 Apr 18.
Induced pluripotent stem cell (iPSC) line was derived from peripheral blood mononuclear cells (PBMCs) of a Kearns-Sayre syndrome (KSS) patient with mtDNA deletion of 4.8 kilobase fragment. KSS is an ultrarare multi-organ disorder and is characterized with (1.1 to 10 kilobase) deletion of mitochondrial DNA (mtDNA) with a frequency of ~1 in 100,000 individuals. Heteroplasmy in PBMCs allowed us to generate an iPSC line with normal mitochondrial DNA that can be used to study therapeutic prospective of iPSC and their derivatives and design future cell replacement therapies.
诱导多能干细胞（iPSC）系源自 Kearns-Sayre 综合征（KSS）患者的外周血单个核细胞（PBMCs），该患者的线粒体 DNA（mtDNA）缺失了 4.8 千碱基片段。KSS 是一种极其罕见的多器官疾病，其特征是线粒体 DNA（mtDNA）缺失（1.1 至 10 千碱基），频率约为每 10 万人中有 1 例。PBMCs 的异质性允许我们生成具有正常线粒体 DNA 的 iPSC 系，可用于研究 iPSC 及其衍生物的治疗前景，并设计未来的细胞替代疗法。
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