Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion
Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion
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DOI：
10.1016/j.scr.2020.101815
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发表时间：
2020-05-01
影响因子：
1.2
通讯作者：
Hayashi, Yohei
中科院分区：
文献类型：
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作者：
Arai, Yutaka;Takami, Miho;Hayashi, Yohei
青少年肾炎是一种遗传性肾纤毛疾病，可导致囊性肾病、肾纤维化和终末期肾功能衰竭。人诱导多能干细胞(HiPSC)系来源于2例幼年肾炎患者，由外周血单核细胞通过外周血质粒载体获得。所构建的hPSC系具有自我更新和多能性，并携带有较大的NPHP1(肾囊藻毒素1)基因缺失。由于NPHP1功能障碍引起的分子发病机制尚不清楚，这些细胞资源为建立疾病模型和开发治疗青少年肾炎的新方法提供了有用的工具。
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.