从一位莱伯先天性黑蒙症患者中诱导生成人多能干细胞系。
Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis.
机构信息
Division of Intractable Diseases, National Center for Stem Cell and Regenerative Medicine, Korea National Institute of Health, Chungcheongbuk-do, South Korea.
Department of Ophthalmology, Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
出版信息
Stem Cell Res. 2020 Mar;43:101725. doi: 10.1016/j.scr.2020.101725. Epub 2020 Jan 29.
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that is characterized by severe visual impairment in early infancy. We generated a human induced pluripotent stem cell (hiPSC) line, DKHi090-A, from peripheral blood mononuclear cells (PBMCs) of a patient with LCA, by using a Sendai virus-based gene delivery system. We confirmed that DKHi090-A has a nicotinamide mononucleotide adenyltransferase 1 (NMNAT1) mutation and normal karyotype. DKHi090-A line is pluripotent and is capable of multilineage differentiation. This cell line is registered and is available at the National Stem Cell Bank, Korea National Institute of Health.
Leber 先天性黑矇（LCA）是一种遗传性视网膜营养不良，其特征是婴儿早期严重视力障碍。我们使用基于 Sendai 病毒的基因传递系统，从 LCA 患者的外周血单核细胞（PBMC）中产生了一个人诱导多能干细胞（hiPSC）系 DKHi090-A。我们证实 DKHi090-A 具有烟酰胺单核苷酸腺嘌呤二核苷酸转移酶 1（NMNAT1）突变和正常核型。DKHi090-A 系具有多能性，并且能够进行多谱系分化。该细胞系已在韩国国立卫生研究院国家干细胞银行注册并可供使用。
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