Generation of patient-specific induced pluripotent stem cells from Leber's hereditary optic neuropathy
Generation of patient-specific induced pluripotent stem cells from Leber's hereditary optic neuropathy
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DOI：
10.1016/j.scr.2018.01.029
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发表时间：
2018-04-01
影响因子：
1.2
通讯作者：
Chiou, Shih-Hwa
中科院分区：
文献类型：
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作者：
Lu, Huai-En;Yang, Yi-Ping;Chiou, Shih-Hwa
Leber遗传性视神经病变(LHON)是一种母系遗传性线粒体疾病，由线粒体DNA复合体I亚单位基因的同质点突变引起。在这篇报道中，我们用仙台病毒传递系统从一名女性Leber遗传性视神经病变(LHON)患者的外周血单个核细胞中获得了一株诱导性多能干细胞系TVGH-IPSC-010-09。由此产生的IPSCs保留了导致疾病的线粒体DNA突变，表达了多潜能标记，并可以分化为三个胚层。我们认为，LHON患者特异性IPSCs为评估疾病的病理表型提供了一个强大的体外模型。(C)2017年作者。爱思唯尔出版公司(Elsevier B.V.)
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. In this report, we generated an induced pluripotent stem cell (iPSCs) line, TVGH-iPSC-010-09, from the peripheral blood mononuclear cells of a female patient with Leber's hereditary optic neuropathy (LHON) by using the Sendai-virus delivery system. The resulting iPSCs retained the disease-causing mitochondrial DNA mutation, expressed pluripotent markers and could differentiate into the three germ layers. We believe LHON patient-specific iPSCs provide a powerful in vitro model for evaluating the pathological phenotypes of the disease. (c) 2017 The Authors. Published by Elsevier B.V.