来自Best 1基因c.763C > T突变的Best病患者的诱导多能干细胞系SJTUGHi004-A的生成

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-14 DOI:10.1016/j.scr.2025.103806

Yuxin Jiang , Hong Wang , Lihong Jiang , Jieqiong Chen , Tong Li , Guanran Zhang , Xueli Chen , Mei Jiang , Xiaodong Sun

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引用次数: 0

摘要

Best 's disease (BD)，又称Best黄斑营养不良症，是一种常染色体显性黄斑变性，由BESTROPHIN1 （BEST1）基因突变引起。在这里，我们通过非整合的仙台病毒递送系统，从患有c.763C >； T突变的患者的外周血单个核细胞（PBMCs）中获得了诱导多能干细胞（iPSC）系。对该iPSC细胞系的核型稳定性、多能性标记和体外分化潜力进行了表征和验证，为探索其病理机制和药物开发提供了强有力的模型。

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Generation of the induced pluripotent stem cell line SJTUGHi004-A derived from a Best’s disease patient with c.763C > T mutation in BEST1 gene

Best’s disease (BD), referred to as Best vitelliform macular dystrophy, is an autosomal dominant macular degeneration caused by mutations in the BESTROPHIN1 (BEST1) gene. Here, we generated an induced pluripotent stem cell (iPSC) line by the non-integrative Sendai-virus delivery system derived from peripheral blood mononuclear cells (PBMCs) of a patient with c.763C > T mutation in the BEST1 gene. The iPSC line was characterized and validated for the karyotype stability, pluripotency markers, and differentiation potential in vitro, which may serve as a powerful model for exploring the pathological mechanism and pharmaceutical 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.