表达含有肾2血栓性微血管病变引起突变的MMACHC蛋白的转基因多能干细胞系的产生。

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-09-22 DOI:10.1016/j.scr.2025.103843

Zhiqi Zhou, Xiao'e Zhang, Cuilan Hou, Ying Wu

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引用次数: 0

摘要

MMACHC（钴胺素相关C代谢）基因突变与钴胺素C紊乱有关，并在肾血栓性微血管病变（TMA）的婴儿中有报道。这些突变背后的病理生理学及其在引起内皮损伤中的作用仍然难以捉摸。我们产生了一种转基因多能干细胞（iPSC）系，表达含有肾2血栓性微血管病变引起突变（p.Q27R）的MMACHC蛋白。iPSC表现出典型的干细胞形态，表达多能性标记，并显示正常的核型。iPSC细胞系为探索代谢介导的TMA诱导内皮损伤的发病机制和筛选减轻内皮损伤的药物提供了有价值的平台。

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Generation of a transgenic pluripotent stem cell line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R).

Mutations in the MMACHC (metabolism of cobalamin associated C) gene are associated with cobalamin C disorder and have been reported in infants with renal thrombotic microangiopaopathy (TMA). The pathophysiology underlying these mutations and their role in causing endothelial damage remains elusive. We generated a transgenic pluripotent stem cell (iPSC) line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R). The iPSC exhibits a typical stem cell morphology, expresses pluripotency markers, and displays a normal karyotype. The iPSC line provides a valuable platform for exploring the pathogenesis of endothelial injury induced by metabolism-mediated TMA and for screening drugs to reduce endothelial damage.

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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.