Laurens Léger , Jeffrey Aalders , Nina Heymans , Kiara Van Acker-Verberckt , Léa De Bleeckere , Paul Coucke , Björn Menten , Barbara Bauce , Libero Vitiello , Alessandra Rampazzo , Martina Calore , Jolanda van Hengel
{"title":"利用 CRISPR/Cas9 编辑技术，从携带 c.817C>T DSP 杂合子变异的心律失常性心肌病患者和同源对照组中生成人类诱导多能干细胞系 UGENTi002-A","authors":"Laurens Léger , Jeffrey Aalders , Nina Heymans , Kiara Van Acker-Verberckt , Léa De Bleeckere , Paul Coucke , Björn Menten , Barbara Bauce , Libero Vitiello , Alessandra Rampazzo , Martina Calore , Jolanda van Hengel","doi":"10.1016/j.scr.2024.103537","DOIUrl":null,"url":null,"abstract":"<div><p>Arrhythmogenic cardiomyopathy is a severe genetic heart muscle disease characterized by fibro-fatty replacement of the myocardium. Pathogenic variants causal for this disease are mainly located in desmosomal genes, including desmoplakin (<em>DSP</em>). Renal epithelial cells were isolated from a patient carrying the heterozygous c.817C>T (p.Q273*, nonsense) pathogenic variant in <em>DSP</em>, and subsequently reprogrammed using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit. An isogenic control line was generated using CRISPR/Cas9 genome editing. The resulting induced pluripotent stem cell lines were characterized and displayed the required traits for <em>in vitro</em> disease modeling.</p></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8000,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1873506124002356/pdfft?md5=af366970a71ec594ed9d2f97efc30ead&pid=1-s2.0-S1873506124002356-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing\",\"authors\":\"Laurens Léger , Jeffrey Aalders , Nina Heymans , Kiara Van Acker-Verberckt , Léa De Bleeckere , Paul Coucke , Björn Menten , Barbara Bauce , Libero Vitiello , Alessandra Rampazzo , Martina Calore , Jolanda van Hengel\",\"doi\":\"10.1016/j.scr.2024.103537\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Arrhythmogenic cardiomyopathy is a severe genetic heart muscle disease characterized by fibro-fatty replacement of the myocardium. Pathogenic variants causal for this disease are mainly located in desmosomal genes, including desmoplakin (<em>DSP</em>). Renal epithelial cells were isolated from a patient carrying the heterozygous c.817C>T (p.Q273*, nonsense) pathogenic variant in <em>DSP</em>, and subsequently reprogrammed using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit. An isogenic control line was generated using CRISPR/Cas9 genome editing. The resulting induced pluripotent stem cell lines were characterized and displayed the required traits for <em>in vitro</em> disease modeling.</p></div>\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2024-08-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S1873506124002356/pdfft?md5=af366970a71ec594ed9d2f97efc30ead&pid=1-s2.0-S1873506124002356-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Stem cell research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1873506124002356\",\"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/S1873506124002356","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing
Arrhythmogenic cardiomyopathy is a severe genetic heart muscle disease characterized by fibro-fatty replacement of the myocardium. Pathogenic variants causal for this disease are mainly located in desmosomal genes, including desmoplakin (DSP). Renal epithelial cells were isolated from a patient carrying the heterozygous c.817C>T (p.Q273*, nonsense) pathogenic variant in DSP, and subsequently reprogrammed using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit. An isogenic control line was generated using CRISPR/Cas9 genome editing. The resulting induced pluripotent stem cell lines were characterized and displayed the required traits for in vitro disease modeling.
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.
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