携带ACTA2基因突变的胸主动脉瘤患者诱导多能干细胞系的生成

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-09-12 DOI:10.1016/j.scr.2025.103833

Tian-Ding Liu , Shuai Sun , Lu Ren , Yan Zhuge , Souhrid Mukherjee , David H. Liang , Joseph C. Wu

{"title":"携带ACTA2基因突变的胸主动脉瘤患者诱导多能干细胞系的生成","authors":"Tian-Ding Liu , Shuai Sun , Lu Ren , Yan Zhuge , Souhrid Mukherjee , David H. Liang , Joseph C. Wu","doi":"10.1016/j.scr.2025.103833","DOIUrl":null,"url":null,"abstract":"<div><div>Thoracic aortic aneurysms (TAA) are abnormal dilations of the aorta above the diaphragm. Mutations in the ACTA2 gene are among the most common genetic causes of TAA. Induced pluripotent stem cells (iPSCs) provide a platform for comprehensive biological investigations and the development of tailored medical strategies for this condition. Here, two iPSC lines were generated from TAA patients harboring the ACTA2 mutation, c.773 G > A. Both iPSC lines demonstrated characteristic pluripotent stem cell morphology, expressed core pluripotency markers, maintained normal karyotypes, and possessed the capacity for trilineage differentiation. These cell lines represent a valuable resource for studying the genetic and cellular mechanisms underlying TAA pathogenesis associated with ACTA2 mutations.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103833"},"PeriodicalIF":0.7000,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Generation of induced pluripotent stem cell lines from patients with thoracic aortic aneurysm carrying the ACTA2 gene mutation\",\"authors\":\"Tian-Ding Liu , Shuai Sun , Lu Ren , Yan Zhuge , Souhrid Mukherjee , David H. Liang , Joseph C. Wu\",\"doi\":\"10.1016/j.scr.2025.103833\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Thoracic aortic aneurysms (TAA) are abnormal dilations of the aorta above the diaphragm. Mutations in the ACTA2 gene are among the most common genetic causes of TAA. Induced pluripotent stem cells (iPSCs) provide a platform for comprehensive biological investigations and the development of tailored medical strategies for this condition. Here, two iPSC lines were generated from TAA patients harboring the ACTA2 mutation, c.773 G > A. Both iPSC lines demonstrated characteristic pluripotent stem cell morphology, expressed core pluripotency markers, maintained normal karyotypes, and possessed the capacity for trilineage differentiation. These cell lines represent a valuable resource for studying the genetic and cellular mechanisms underlying TAA pathogenesis associated with ACTA2 mutations.</div></div>\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":\"88 \",\"pages\":\"Article 103833\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-09-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Stem cell research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1873506125001837\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Stem cell research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1873506125001837","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

胸主动脉瘤（TAA）是横膈膜上方主动脉的异常扩张。ACTA2基因突变是TAA最常见的遗传原因之一。诱导多能干细胞（iPSCs）为全面的生物学研究和针对这种情况量身定制的医疗策略的发展提供了一个平台。在这里，从携带ACTA2突变c.773的TAA患者中产生了两个iPSC系两种iPSC细胞系都表现出多能干细胞的特征形态，表达核心多能标记，保持正常核型，并具有三龄分化的能力。这些细胞系为研究与ACTA2突变相关的TAA发病机制的遗传和细胞机制提供了宝贵的资源。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Generation of induced pluripotent stem cell lines from patients with thoracic aortic aneurysm carrying the ACTA2 gene mutation

Thoracic aortic aneurysms (TAA) are abnormal dilations of the aorta above the diaphragm. Mutations in the ACTA2 gene are among the most common genetic causes of TAA. Induced pluripotent stem cells (iPSCs) provide a platform for comprehensive biological investigations and the development of tailored medical strategies for this condition. Here, two iPSC lines were generated from TAA patients harboring the ACTA2 mutation, c.773 G > A. Both iPSC lines demonstrated characteristic pluripotent stem cell morphology, expressed core pluripotency markers, maintained normal karyotypes, and possessed the capacity for trilineage differentiation. These cell lines represent a valuable resource for studying the genetic and cellular mechanisms underlying TAA pathogenesis associated with ACTA2 mutations.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

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.