Creation of Induced Pluripotent Stem Cells RCMGi014-A Using Reprogramming of Urine Cells of a Patient with Fibrodysplasia Ossificans Progressiva Associated with Heterozygous Mutation in the ACVR1 Gene

IF 0.5 4区生物学 Q4 DEVELOPMENTAL BIOLOGY

Russian Journal of Developmental Biology Pub Date : 2024-07-18 DOI:10.1134/s1062360424700048

E. V. Kondrateva, O. V. Grigorieva, E. V. Kurshakova, I. O. Panchuk, V. O. Pozhitnova, E. S. Voronina, V. Yu. Tabakov, I. P. Nikishina, S. V. Arsenyeva, V. G. Matkava, A. V. Lavrov, S. A. Smirnikhina, S. I. Kutsev

{"title":"Creation of Induced Pluripotent Stem Cells RCMGi014-A Using Reprogramming of Urine Cells of a Patient with Fibrodysplasia Ossificans Progressiva Associated with Heterozygous Mutation in the ACVR1 Gene","authors":"E. V. Kondrateva, O. V. Grigorieva, E. V. Kurshakova, I. O. Panchuk, V. O. Pozhitnova, E. S. Voronina, V. Yu. Tabakov, I. P. Nikishina, S. V. Arsenyeva, V. G. Matkava, A. V. Lavrov, S. A. Smirnikhina, S. I. Kutsev","doi":"10.1134/s1062360424700048","DOIUrl":null,"url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disease caused by mutations in the <i>ACVR1</i> gene for which there is currently no effective therapy. Therefore, obtaining iPSCs for further modeling and development of treatment methods, including gene therapy, can be very promising. The authors herein describe the generation of the induced pluripotent stem cell (iPSCs) line RCMGi014-A from urinary sediment cells of a patient with clinically expressed and genetically proven (<i>ACVR1</i>:c.6176G>A) FOP. These iPSCs proliferate in dense monolayer cell colonies, have a normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, TRA-1-60, SSEA-4), and show the ability to differentiate into three germ layers, which confirms their pluripotent status.</p>","PeriodicalId":21434,"journal":{"name":"Russian Journal of Developmental Biology","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Russian Journal of Developmental Biology","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1134/s1062360424700048","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"DEVELOPMENTAL BIOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disease caused by mutations in the ACVR1 gene for which there is currently no effective therapy. Therefore, obtaining iPSCs for further modeling and development of treatment methods, including gene therapy, can be very promising. The authors herein describe the generation of the induced pluripotent stem cell (iPSCs) line RCMGi014-A from urinary sediment cells of a patient with clinically expressed and genetically proven (ACVR1:c.6176G>A) FOP. These iPSCs proliferate in dense monolayer cell colonies, have a normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, TRA-1-60, SSEA-4), and show the ability to differentiate into three germ layers, which confirms their pluripotent status.

Abstract Image

查看原文本刊更多论文

利用对一名伴有 ACVR1 基因杂合子突变的肌纤维增生症患者的尿液细胞进行重编程，创建诱导多能干细胞 RCMGi014-A

摘要渐进性骨纤维增生症（FOP）是一种由 ACVR1 基因突变引起的严重遗传病，目前尚无有效的治疗方法。因此，获得 iPSCs 用于进一步建模和开发治疗方法（包括基因治疗）是非常有前景的。作者在本文中描述了从一名临床表达和基因证实（ACVR1:c.6176G>A）的FOP患者的尿沉渣细胞中生成诱导多能干细胞（iPSCs）系RCMGi014-A的过程。这些 iPSCs 在致密的单层细胞集落中增殖，具有正常的核型（46,XY），表达多能性标记（OCT4、SOX2、TRA-1-60、SSEA-4），并显示出向三个生殖层分化的能力，这证实了它们的多能性状态。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Russian Journal of Developmental Biology DEVELOPMENTAL BIOLOGY-

自引率

28.60%

发文量

审稿时长

>12 weeks

期刊介绍： Russian Journal of Developmental Biology is a journal that publishes reviews and experimental articles dealing with various aspects of developmental biology. It presents fundamental and applied research on development, regeneration, and carcinogenesis at the molecular, cellular, and organismic levels.