从一名携带OPA1突变的显性遗传性视神经萎缩患者中生成人诱导多能干细胞系PUMCHi019-A。
Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation.
作者信息
Sun Zixi, Wu Shijing, Zhu Tian, Wei Xing, Han Xiaoxu, Zou Xuan, Sui Ruifang
机构信息
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.
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.
出版信息
Stem Cell Res. 2022 Apr;60:102705. doi: 10.1016/j.scr.2022.102705. Epub 2022 Feb 8.
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.
显性遗传性视神经萎缩（DOA）是最常见的遗传性视神经萎缩类型之一。在此，我们描述了一例携带OPA1突变的DOA患者的人诱导多能干细胞（hiPSC）系的建立及特性。该iPSC系通过使用非整合型仙台病毒从外周血单个核细胞（PBMC）重编程而来。所建立的hiPSC系保留了疾病相关突变，并显示出正常的核型、多能性和分化能力。
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