由PRPF31基因突变引起的视网膜色素变性患者的人类iPSC系ESi132-A的生成

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-07 DOI:10.1016/j.scr.2024.103623

Estefanía Caballano Infantes, Laurie Clauzon, Berta de la Cerda Haynes, Francisco Díaz-Corrales

{"title":"由PRPF31基因突变引起的视网膜色素变性患者的人类iPSC系ESi132-A的生成","authors":"Estefanía Caballano Infantes, Laurie Clauzon, Berta de la Cerda Haynes, Francisco Díaz-Corrales","doi":"10.1016/j.scr.2024.103623","DOIUrl":null,"url":null,"abstract":"Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency. These cells will be used to develop advanced 3D biomodels based on multi-ocular cell differentiation to assess the efficacy of novel treatments for RP including innovative drug and gene therapies.","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103623"},"PeriodicalIF":0.8000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene.\",\"authors\":\"Estefanía Caballano Infantes, Laurie Clauzon, Berta de la Cerda Haynes, Francisco Díaz-Corrales\",\"doi\":\"10.1016/j.scr.2024.103623\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency. These cells will be used to develop advanced 3D biomodels based on multi-ocular cell differentiation to assess the efficacy of novel treatments for RP including innovative drug and gene therapies.\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":\"82 \",\"pages\":\"103623\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2025-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Stem cell research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.scr.2024.103623\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/12/7 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Stem cell research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.scr.2024.103623","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/7 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

PRPF31基因突变是常染色体显性视网膜色素变性（RP）的一个众所周知的原因，RP是成人失明中最常见的遗传形式，全球每4000人中就有1人受到影响。在这项研究中，来自携带PRPF31杂合突变的患者的外周血单核细胞被重新编程以产生人类iPSC系ESi132-A。该细胞系具有自我更新和多能性。这些细胞将用于开发基于多眼细胞分化的先进3D生物模型，以评估包括创新药物和基因疗法在内的RP新疗法的疗效。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene.

Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency. These cells will be used to develop advanced 3D biomodels based on multi-ocular cell differentiation to assess the efficacy of novel treatments for RP including innovative drug and gene therapies.

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 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.