{"title":"从一名杂合子 1q21.1 缺失的精神分裂症患者体内生成诱导多能干细胞","authors":"Hiroki Okumura , Yu Hayashi , Yuko Arioka , Itaru Kushima , Daisuke Mori , Norio Ozaki","doi":"10.1016/j.scr.2024.103555","DOIUrl":null,"url":null,"abstract":"<div><p>1q21.1 deletion has been identified as a risk factor related to not only mental disorders such as schizophrenia, but also congenital heart defects. However, at human cellular and molecular levels, it is still not known how this variant affects brain and heart development and contributes to the onset of these diseases.</p><p>Here, we generated induced pluripotent stem cells (iPSCs) from a patient with 1q21.1 deletion. The iPSCs expressed stemness markers and exhibited the ability to differentiate into three germ layers <em>in vitro</em>. These iPSCs will be useful tools to understand the pathophysiology of mental disorders and heart defects in humans.</p></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103555"},"PeriodicalIF":0.8000,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1873506124002538/pdfft?md5=c33e8bdbc23dd46ac0ae9c4021294aa9&pid=1-s2.0-S1873506124002538-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Generation of induced pluripotent stem cells from a schizophrenia patient with heterozygous 1q21.1 deletion\",\"authors\":\"Hiroki Okumura , Yu Hayashi , Yuko Arioka , Itaru Kushima , Daisuke Mori , Norio Ozaki\",\"doi\":\"10.1016/j.scr.2024.103555\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>1q21.1 deletion has been identified as a risk factor related to not only mental disorders such as schizophrenia, but also congenital heart defects. However, at human cellular and molecular levels, it is still not known how this variant affects brain and heart development and contributes to the onset of these diseases.</p><p>Here, we generated induced pluripotent stem cells (iPSCs) from a patient with 1q21.1 deletion. The iPSCs expressed stemness markers and exhibited the ability to differentiate into three germ layers <em>in vitro</em>. These iPSCs will be useful tools to understand the pathophysiology of mental disorders and heart defects in humans.</p></div>\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":\"81 \",\"pages\":\"Article 103555\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2024-09-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S1873506124002538/pdfft?md5=c33e8bdbc23dd46ac0ae9c4021294aa9&pid=1-s2.0-S1873506124002538-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Stem cell research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1873506124002538\",\"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/S1873506124002538","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 induced pluripotent stem cells from a schizophrenia patient with heterozygous 1q21.1 deletion
1q21.1 deletion has been identified as a risk factor related to not only mental disorders such as schizophrenia, but also congenital heart defects. However, at human cellular and molecular levels, it is still not known how this variant affects brain and heart development and contributes to the onset of these diseases.
Here, we generated induced pluripotent stem cells (iPSCs) from a patient with 1q21.1 deletion. The iPSCs expressed stemness markers and exhibited the ability to differentiate into three germ layers in vitro. These iPSCs will be useful tools to understand the pathophysiology of mental disorders and heart defects in humans.
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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