从3个携带RS1基因突变的男性XLRS患者身上获得人诱导多能干细胞系。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-01-23 DOI:10.1016/j.scr.2025.103665

Sang-Yun Kim , Yong-Min Choi , Yunho Park , Seung-Hyun Kim , Hyun Beom Song , Jeong Hun Kim , Ok-Seon Kwon , Kyung-Sook Chung

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引用次数: 0

摘要

x连锁视网膜裂（XLRS）是由RS1基因突变引起的遗传性视网膜疾病。由于可用于研究视网膜疾病的细胞来源有限，患者来源的诱导多能干细胞（iPSCs）为开发XLRS疾病模型提供了重要的资源。在这项研究中，我们从3名诊断为XLRS的患者中获得了iPSC系，每个都携带不同的致病RS1变异（c.421C > T, c.130_140del和c.214G > A）。这些iPSC系表现出多能性，体外分化潜力和正常核型，使其成为研究XLRS发病机制和推进治疗开发的宝贵资源。

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Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation

X-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutation in RS1 gene. Due to limited cell sources available for studying retinal disease, patient-derived induced pluripotent stem cells (iPSCs) offer an essential resource for developing XLRS disease models. In this study, we generated iPSC lines from three patients diagnosed with XLRS, each carrying distinct pathogenic RS1 variant (c.421C > T, c.130_140del and c.214G > A). These iPSC lines demonstrated pluripotency, in vitro differentiation potential, and a normal karyotype, making them valuable resource for investigating XLRS pathogenesis and for advancing therapeutic development.

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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.