生成携带与Leber遗传性视神经病变（LHON）相关的MT-ND1基因m.G3460A纯合突变的人诱导多能干细胞系FINCBi001-A。
Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).
作者信息
Peron Camille, Mauceri Roberta, Cabassi Tommaso, Segnali Alice, Maresca Alessandra, Iannielli Angelo, Rizzo Ambra, Sciacca Francesca L, Broccoli Vania, Carelli Valerio, Tiranti Valeria
机构信息
Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
出版信息
Stem Cell Res. 2020 Oct;48:101939. doi: 10.1016/j.scr.2020.101939. Epub 2020 Aug 3.
Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic mutations of mitochondrial DNA (mtDNA). LHON is characterized by the selective degeneration of the retinal ganglion cells (RGC). Almost all LHON maternal lineages are homoplasmic mutant (100% mtDNA copies are mutant) for one of three frequent mtDNA mutations now found in over 90% of patients worldwide (m.11778G > A/MT-ND4, m.3460G > A/MT-ND1, m.14484 T > C/MT-ND6). Human induced pluripotent stem cells (hiPSCs) were generated from a patient carrying the homoplasmic m.3460G > A/MT-ND1 mutation using the Sendai virus non-integrating virus.
Leber遗传性视神经病变（LHON）是一种由线粒体DNA（mtDNA）同质性突变引起的母系遗传性疾病。LHON的特征是视网膜神经节细胞（RGC）选择性退化。几乎所有LHON母系谱系都是三种常见mtDNA突变之一的同质性突变体（100%的mtDNA拷贝是突变体），目前在全球90%以上的患者中发现了这三种突变（m.11778G>A/MT-ND4、m.3460G>A/MT-ND1、m.14484T>C/MT-ND6）。使用仙台病毒非整合病毒从携带同质性m.3460G>A/MT-ND1突变的患者中生成了人类诱导多能干细胞（hiPSC）。
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