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

被引：1
|
作者：
Ji, Dongmei [1 ,2 ,3 ]
Su, Xun [1 ,2 ]
Hu, Chao [1 ,2 ]
Zhang, Zhikang [1 ,2 ]
Wang, Mengyao [1 ,2 ]
Zou, Weiwei [1 ,2 ,3 ]
Shen, Lingchao [1 ,2 ]
Liu, Yajing [1 ,2 ,3 ]
Liang, Chunmei [1 ,2 ,3 ]
Du, Yinan [1 ,3 ,4 ]
Liang, Dan [1 ,2 ,3 ]
Cao, Yunxia [1 ,2 ,3 ]
机构：
[1] Anhui Med Univ, Reprod Med Ctr, Dept Obstet & Gynecol, Affiliated Hosp 1, 218 Jixi Rd, Hefei 230022, Anhui, Peoples R China
[2] Anhui Med Univ, NHC Key Lab Study Abnormal Gametes & Reprod Tract, 81 Meishan Rd, Hefei 230032, Anhui, Peoples R China
[3] Anhui Med Univ, Key Lab Populat Hlth Life Cycle, Minist Educ Peoples Republ China, 81 Meishan Rd, Hefei 230032, Anhui, Peoples R China
[4] Anhui Med Univ, Sch Clin Med 1, Hefei 230032, Anhui, Peoples R China
来源：
STEM CELL RESEARCH | 2022年 / 63卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2022.102858
中图分类号：
Q813 [细胞工程];
学科分类号：
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.
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页数：4
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