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

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 f...

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Published in:Stem cell research 2022-08, Vol.63, p.102858-102858, Article 102858
Main Authors: Ji, Dongmei, Su, Xun, Hu, Chao, Zhang, Zhikang, Wang, Mengyao, Zou, Weiwei, Shen, Lingchao, Liu, Yajing, Liang, Chunmei, Du, Yinan, Liang, Dan, Cao, Yunxia
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Language:English
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102858