Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation

Zixi Sun; Shijing Wu; Tian Zhu; Xing Wei; Xiaoxu Han; Xuan Zou; Ruifang Sui

doi:10.1016/j.scr.2022.102705

Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation

Stem Cell Res. 2022 Apr:60:102705. doi: 10.1016/j.scr.2022.102705. Epub 2022 Feb 8.

Authors

Zixi Sun¹, Shijing Wu¹, Tian Zhu¹, Xing Wei¹, Xiaoxu Han¹, Xuan Zou¹, Ruifang Sui²

Affiliations

¹ Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
² Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address: hrfsui@163.com.

PMID: 35152176
DOI: 10.1016/j.scr.2022.102705

Abstract

Dominant optic atrophy (DOA) is one of the most common type of hereditary optic atrophy. Here, we describe the generation and characterization of a human induced pluripotent stem cell (hiPSC) line of DOA patient with an OPA1 mutation. The reprogramming of this iPSC line was performed from peripheral blood mononuclear cells (PBMCs) using the non-integrative Sendai virus. The established hiPSC line retained the disease-associated mutation and showed normal karyotype, pluripotency, and differentiation capacity.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation
Cellular Reprogramming
GTP Phosphohydrolases / genetics
Humans
Induced Pluripotent Stem Cells* / metabolism
Leukocytes, Mononuclear
Mutation / genetics
Optic Atrophy, Autosomal Dominant* / genetics
Optic Atrophy, Autosomal Dominant* / metabolism

Substances

GTP Phosphohydrolases
OPA1 protein, human