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

Stem Cell Research (Apr 2022)

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

Affiliations

Zixi Sun: 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
Shijing Wu: 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
Tian Zhu: 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
Xing Wei: 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
Xiaoxu Han: 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
Xuan Zou: 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
Ruifang Sui: Corresponding author at: Department of Ophthalmology, Peking Union Medical College Hospital, 1 Shuai Fu Yuan, Beijing 100730, China.; 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

Journal volume & issue: Vol. 60
p. 102705

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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