一种致病性MYH11变体的三个症状携带者和两个非携带者亲属衍生的新型诱导多能干细胞（iPSC）系的产生和特性

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-12 DOI:10.1016/j.scr.2024.103630

Aria Atash, Maarten Jan Cramer, Barend Mees, Pieter A Doevendans, Joost P G Sluijter, Francesca Stillitano

{"title":"一种致病性MYH11变体的三个症状携带者和两个非携带者亲属衍生的新型诱导多能干细胞（iPSC）系的产生和特性","authors":"Aria Atash, Maarten Jan Cramer, Barend Mees, Pieter A Doevendans, Joost P G Sluijter, Francesca Stillitano","doi":"10.1016/j.scr.2024.103630","DOIUrl":null,"url":null,"abstract":"A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generated from peripheral blood mononuclear cells (PBMCs) of three variant carriers and two non-carrying family members. Each iPSC line exhibited typical iPSC morphology and expressed positive markers for pluripotency and tri-lineage differentiation. These cell lines offer a platform for in vitro investigation of the unknown fTAAD pathophysiology and testing of therapeutical agents for aneurysm growth attenuation.","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103630"},"PeriodicalIF":0.8000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Generation and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives.\",\"authors\":\"Aria Atash, Maarten Jan Cramer, Barend Mees, Pieter A Doevendans, Joost P G Sluijter, Francesca Stillitano\",\"doi\":\"10.1016/j.scr.2024.103630\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generated from peripheral blood mononuclear cells (PBMCs) of three variant carriers and two non-carrying family members. Each iPSC line exhibited typical iPSC morphology and expressed positive markers for pluripotency and tri-lineage differentiation. These cell lines offer a platform for in vitro investigation of the unknown fTAAD pathophysiology and testing of therapeutical agents for aneurysm growth attenuation.\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":\"82 \",\"pages\":\"103630\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2025-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Stem cell research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.scr.2024.103630\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/12/12 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Stem cell research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.scr.2024.103630","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/12 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

一种新的致病变异MYH11基因（c.4559+1G>A）导致外显子32跳变，是家族性主动脉瘤和夹层（fTAAD）的罕见病因。表型已被证明是高度可变的，外显率降低。在这里，我们报道了人类诱导多能干细胞（iPSC）系，由三个变异携带者和两个非携带者的外周血单个核细胞（PBMCs）产生。每个iPSC系表现出典型的iPSC形态，并表达了多能性和三系分化的阳性标记。这些细胞系为体外研究未知的fTAAD病理生理和测试抑制动脉瘤生长的治疗药物提供了平台。

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 and characterization of novel induced pluripotent stem cell (iPSC) lines derived from three symptomatic carriers of a pathogenic MYH11 variant and two non-carrier relatives.

A novel pathogenic variant in the MYH11 gene (c.4559+1G>A) leading to exon 32 skipping, is a rare cause of familial aortic aneurysms and dissections (fTAAD). The phenotype has proven highly variable with reduced penetrance. Here, we report human induced pluripotent stem cell (iPSC) lines, generated from peripheral blood mononuclear cells (PBMCs) of three variant carriers and two non-carrying family members. Each iPSC line exhibited typical iPSC morphology and expressed positive markers for pluripotency and tri-lineage differentiation. These cell lines offer a platform for in vitro investigation of the unknown fTAAD pathophysiology and testing of therapeutical agents for aneurysm growth attenuation.

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.