标题：Generation of an induced pluripotent stem cell line from a patient with leber's hereditary optic neuropathy carrying a homoplasmic m.3635G > A mutation in the mitochondrial ND1 gene

中文标题：Leber遗传性视神经病变者的线粒体 ND1基因同质性 m. 3635G > A 突变产生的人工多能干细胞

引用信息：

Ji D, Su X, Hu C, Zhang Z, Wang M, Zou W, Shen L, Liu Y, Liang C, Du Y, Liang D, Cao Y. Generation of an induced pluripotent stem cell line from a patient with leber's hereditary optic neuropathy carrying a homoplasmic m.3635G > A mutation in the mitochondrial ND1 gene. Stem Cell Res. 2022 Aug;63:102858. doi: 10.1016/j.scr.2022.102858. Epub 2022 Jul 12. PMID: 35905669.

摘要：

Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that usually leads to selective degeneration of retinal ganglion cells (RGCs) and optic atrophy in young adults. One of three common mitochondrial DNA (mtDNA) mutations (m.11778G > A, m.3460G > A, m.14484 T > C) account for 90% of LHON cases. All three affect the function of respiration chain complex I. However, m.3635G > A, affecting the structure and function of MT-ND1 gene, is also associated with LHON. Here, we successfully generated a human induced pluripotent stem cell (hiPSC) line from an LHON patient carrying a homoplasmic m.3635G > A mutation in the MT-ND1 gene.

中文摘要：

Leber遗传性视神经病变(LHON)是一种线粒体疾病，通常导致年轻人视网膜神经节细胞(RGC)的选择性变性和视神经萎缩。其中一个常见的线粒体脱氧核糖核酸(mtDNA)突变(m. 11778G > A，m. 3460G > A，m. 14484T > C)占 LHON 病例的90% 。三者均影响呼吸链复合物 I 的功能，但 m. 3635G > A 影响 MT-ND1基因的结构和功能，也与 LHON 有关。在这里，我们成功地从一个携带 MT-ND1基因同质性 m.3635 G > A 突变的 LHON 患者中产生了一个人类人工多能干细胞(hipSC)系。

原文链接：

https://www.sciencedirect.com/science/article/pii/S1873506122002070?via%3Dihub