源自两名携带NPHP1缺失的青少年肾单位肾痨患者的两个人类诱导多能干细胞系的生成。
Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion.
作者信息
Arai Yutaka, Takami Miho, An Yuri, Matsuo-Takasaki Mami, Hemmi Yasuko, Wakabayashi Tamami, Inoue Jun, Noguchi Michiya, Nakamura Yukio, Sugimoto Keisuke, Takemura Tsukasa, Okita Keisuke, Osafune Kenji, Takasato Minoru, Hayata Tadayoshi, Hayashi Yohei
机构信息
iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan; Department of Molecular Pharmacology, Graduate School of Pharmaceutical Sciences and Faculty of Pharmaceutical Sciences, Tokyo University of Science, 2641 Yamazaki, Noda, Chiba, 278-8510, Japan.
iPS Cell Advanced Characterization and Development Team, BioResource Research Center, RIKEN, 3-1-1 Koyadai, Tsukuba, Ibaraki 305-0074, Japan.
出版信息
Stem Cell Res. 2020 May;45:101815. doi: 10.1016/j.scr.2020.101815. Epub 2020 Apr 21.
Juvenile nephronophthisis is an inherited renal ciliopathy, causing cystic kidney disease, renal fibrosis, and end-stage renal failure. Human induced pluripotent stem cell (hiPSC) lines, derived from two Juvenile nephronophthisis patients, were generated from peripheral blood mononuclear cells by episomal plasmid vectors. Generated hiPSC lines showed self-renewal and pluripotency and carried a large deletion in NPHP1 (Nephrocystin 1) gene. Since the molecular pathogenesis caused by NPHP1 dysfunction remains unclear, these cell resources provide useful tools to establish disease models and to develop new therapies for juvenile nephronophthisis.
青少年肾单位肾痨是一种遗传性肾纤毛病，可导致多囊肾病、肾纤维化和终末期肾衰竭。通过游离质粒载体从两名青少年肾单位肾痨患者的外周血单个核细胞中生成了人诱导多能干细胞（hiPSC）系。生成的hiPSC系表现出自我更新和多能性，并且在NPHP1（肾囊肿蛋白1）基因中存在大片段缺失。由于NPHP1功能障碍引起的分子发病机制仍不清楚，这些细胞资源为建立疾病模型和开发青少年肾单位肾痨的新疗法提供了有用的工具。
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