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 , Mengqing Wu , Jiakai Xiang , Xianrui Hui , Lijun Yang , Ru Lin , Weize Xu , 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 , Mengqing Wu , Jiakai Xiang , Xianrui Hui , Lijun Yang , Ru Lin , Weize Xu , 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}
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.
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.