{"title":"Establishment of a non-integrated iPS cell line (SDQLCHi072-A) from a patient suffered from AUTS2 syndrome","authors":"","doi":"10.1016/j.scr.2024.103554","DOIUrl":null,"url":null,"abstract":"<div><p>In this study, PBMCs used in reprogramming were from a boy suffered from AUTS2 syndrome confirmed by clinical and genetic diagnosis. iPSCs were established by non-integrated method, which carried AUTS2 heterozygous mutation. The established iPSCs presented similar appearance and expressed pluripotent markers in mRNA and protein level. Additionally, the iPSCs possessed favorable differentiative capacity <em>in vivo</em> and normal karyotype. This is an effective potential model for the study about AUTS2 syndrome and the screen about drug therapy.</p></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8000,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1873506124002526/pdfft?md5=aca41c77fefc49978f255f8d77191eb0&pid=1-s2.0-S1873506124002526-main.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Stem cell research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1873506124002526","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
Abstract
In this study, PBMCs used in reprogramming were from a boy suffered from AUTS2 syndrome confirmed by clinical and genetic diagnosis. iPSCs were established by non-integrated method, which carried AUTS2 heterozygous mutation. The established iPSCs presented similar appearance and expressed pluripotent markers in mRNA and protein level. Additionally, the iPSCs possessed favorable differentiative capacity in vivo and normal karyotype. This is an effective potential model for the study about AUTS2 syndrome and the screen about drug therapy.
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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