从一名携带 LZTR1 基因突变的女性患者体内生成人类诱导多能干细胞系。

IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
Jinghua Ruan , Mengqing Wu , Jiakai Xiang , Xianrui Hui , Lijun Yang , Ru Lin , Weize Xu , Qiang Shu
{"title":"从一名携带 LZTR1 基因突变的女性患者体内生成人类诱导多能干细胞系。","authors":"Jinghua Ruan ,&nbsp;Mengqing Wu ,&nbsp;Jiakai Xiang ,&nbsp;Xianrui Hui ,&nbsp;Lijun Yang ,&nbsp;Ru Lin ,&nbsp;Weize Xu ,&nbsp;Qiang Shu","doi":"10.1016/j.scr.2024.103616","DOIUrl":null,"url":null,"abstract":"<div><div>The leucine zipper–like transcriptional regulator 1 (<em>LZTR1</em>) gene has been reported to be associated with many kinds of human diseases, including cardiac disease, Noonan syndrome, and schwannomatosis. In this study, peripheral blood mononuclear cells (PBMCs) derived from patient diagnosed with dilated cardiomyopathy (DCM) was successfully reprogrammed into the human induced pluripotent stem cells (iPSCs) line, harboring a distinct heterozygous mutation in the <em>LZTR1</em> gene. The established patient-derived iPSCs expressed endogenous pluripotent markers, demonstrated the potential to differentiate into three germ layers (endoderm, mesoderm, and ectoderm), and exhibited a normal karyotype.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"81 ","pages":"Article 103616"},"PeriodicalIF":0.8000,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation\",\"authors\":\"Jinghua Ruan ,&nbsp;Mengqing Wu ,&nbsp;Jiakai Xiang ,&nbsp;Xianrui Hui ,&nbsp;Lijun Yang ,&nbsp;Ru Lin ,&nbsp;Weize Xu ,&nbsp;Qiang Shu\",\"doi\":\"10.1016/j.scr.2024.103616\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>The leucine zipper–like transcriptional regulator 1 (<em>LZTR1</em>) gene has been reported to be associated with many kinds of human diseases, including cardiac disease, Noonan syndrome, and schwannomatosis. In this study, peripheral blood mononuclear cells (PBMCs) derived from patient diagnosed with dilated cardiomyopathy (DCM) was successfully reprogrammed into the human induced pluripotent stem cells (iPSCs) line, harboring a distinct heterozygous mutation in the <em>LZTR1</em> gene. The established patient-derived iPSCs expressed endogenous pluripotent markers, demonstrated the potential to differentiate into three germ layers (endoderm, mesoderm, and ectoderm), and exhibited a normal karyotype.</div></div>\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":\"81 \",\"pages\":\"Article 103616\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2024-11-19\",\"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/S1873506124003143\",\"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/S1873506124003143","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

据报道,亮氨酸拉链样转录调节因子 1(LZTR1)基因与多种人类疾病有关,包括心脏病、努南综合征和裂隙性神经瘤病。本研究成功地将来自扩张型心肌病(DCM)患者的外周血单核细胞(PBMCs)重编程为人类诱导多能干细胞(iPSCs)系,其中LZTR1基因存在明显的杂合突变。已建立的患者衍生 iPSCs 表达了内源性多能性标记,显示出分化为三个胚层(内胚层、中胚层和外胚层)的潜力,并表现出正常的核型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation
The leucine zipper–like transcriptional regulator 1 (LZTR1) gene has been reported to be associated with many kinds of human diseases, including cardiac disease, Noonan syndrome, and schwannomatosis. In this study, peripheral blood mononuclear cells (PBMCs) derived from patient diagnosed with dilated cardiomyopathy (DCM) was successfully reprogrammed into the human induced pluripotent stem cells (iPSCs) line, harboring a distinct heterozygous mutation in the LZTR1 gene. The established patient-derived iPSCs expressed endogenous pluripotent markers, demonstrated the potential to differentiate into three germ layers (endoderm, mesoderm, and ectoderm), and exhibited a normal karyotype.
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
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.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信