联合氧化磷酸化缺陷患者诱导多能干细胞系ISMMSi060-A的生成

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-01-20 DOI:10.1016/j.scr.2025.103662

Sophia E. Salemi , Erdene Baljinnyam , Norman N. Liu , Ruiqi Hu , Samuele G. Marro , Bryn D. Webb

{"title":"联合氧化磷酸化缺陷患者诱导多能干细胞系ISMMSi060-A的生成","authors":"Sophia E. Salemi , Erdene Baljinnyam , Norman N. Liu , Ruiqi Hu , Samuele G. Marro , Bryn D. Webb","doi":"10.1016/j.scr.2025.103662","DOIUrl":null,"url":null,"abstract":"<div><div>We have described a novel mitochondrial disorder caused by biallelic pathogenic variants in the methionyl-tRNA synthetase 2 gene (<em>MARS2</em>), now termed Combined oxidative phosphorylation deficiency 25 (COXPD25). This study focuses on the generation and characterization of induced pluripotent stem cells (iPSCs) from fibroblasts of a patient with COXPD25. The resulting iPSC line ISMMSi060-A, carries the compound heterozygous variants c.550C > T; p.Gln184* and c.424C > T; p.Arg142Trp in <em>MARS2</em>. The iPSCs exhibited normal cell morphology, expression of pluripotency markers, genome integrity, and the ability to differentiate.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103662"},"PeriodicalIF":0.8000,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Generation of induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25\",\"authors\":\"Sophia E. Salemi , Erdene Baljinnyam , Norman N. Liu , Ruiqi Hu , Samuele G. Marro , Bryn D. Webb\",\"doi\":\"10.1016/j.scr.2025.103662\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>We have described a novel mitochondrial disorder caused by biallelic pathogenic variants in the methionyl-tRNA synthetase 2 gene (<em>MARS2</em>), now termed Combined oxidative phosphorylation deficiency 25 (COXPD25). This study focuses on the generation and characterization of induced pluripotent stem cells (iPSCs) from fibroblasts of a patient with COXPD25. The resulting iPSC line ISMMSi060-A, carries the compound heterozygous variants c.550C > T; p.Gln184* and c.424C > T; p.Arg142Trp in <em>MARS2</em>. The iPSCs exhibited normal cell morphology, expression of pluripotency markers, genome integrity, and the ability to differentiate.</div></div>\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":\"83 \",\"pages\":\"Article 103662\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2025-01-20\",\"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/S1873506125000121\",\"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/S1873506125000121","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

我们描述了一种由甲硫基trna合成酶2基因（MARS2）双等位致病变异引起的新型线粒体疾病，现在称为联合氧化磷酸化缺陷25 （COXPD25）。本研究的重点是从COXPD25患者的成纤维细胞中产生和表征诱导多能干细胞（iPSCs）。由此产生的iPSC系ISMMSi060-A携带复合杂合变异体c.550C > T；p.Gln184*和c.424C > T；p.Arg142Trp在MARS2。iPSCs表现出正常的细胞形态、多能性标记物的表达、基因组的完整性和分化能力。

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 induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25

We have described a novel mitochondrial disorder caused by biallelic pathogenic variants in the methionyl-tRNA synthetase 2 gene (MARS2), now termed Combined oxidative phosphorylation deficiency 25 (COXPD25). This study focuses on the generation and characterization of induced pluripotent stem cells (iPSCs) from fibroblasts of a patient with COXPD25. The resulting iPSC line ISMMSi060-A, carries the compound heterozygous variants c.550C > T; p.Gln184* and c.424C > T; p.Arg142Trp in MARS2. The iPSCs exhibited normal cell morphology, expression of pluripotency markers, genome integrity, and the ability to differentiate.

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.