Generation of a human iPSC line (NUMNi002-A) from a patient with nephrotic syndrome harboring an INF2 gene variant

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-09-20 DOI:10.1016/j.scr.2025.103842

Chikao Onogi , Akihito Tanaka , Kazuhiro Furuhashi , Asuka Horinouchi , Kumiko Fujieda , Jun Matsumoto , Keita Hattori , Akiko Owaki , Tomohiro Kawazoe , Akihisa Kato , Yu Watanabe , Eri Koshi-Ito , Kayaho Maeda , Hangsoo Kim , Noritoshi Kato , Itaru Kushima , Norio Ozaki , Shoichi Maruyama

引用次数: 0

Abstract

A variant of INF2 has been identified as a risk factor for nephrotic syndrome (focal segmental glomerulosclerosis; FSGS). The mechanism by which this variant contributes to FSGS onset remains unclear. Furthermore, treatment for FSGS remains to be established.We generated induced pluripotent stem cells (iPSCs) from a patient with FSGS caused by the INF2 variant. These iPSCs express stemness markers and can differentiate into the three germ layers in vitro. These iPSCs will be useful tools for understanding the pathophysiology of this type of FSGS and to screen the relevant treatment.

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从携带INF2基因变异的肾病综合征患者身上产生的人类iPSC细胞系(NUMNi002-A

一种变异的INF2已被确定为肾病综合征（局灶节段性肾小球硬化；FSGS）的危险因素。该变异导致FSGS发病的机制尚不清楚。此外，FSGS的治疗方法仍有待确定。我们从一位由INF2变异引起的FSGS患者身上获得了诱导多能干细胞（iPSCs）。这些iPSCs表达干性标记物，并能在体外分化成三种胚层。这些iPSCs将成为了解这种类型的FSGS的病理生理和筛选相关治疗的有用工具。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.