E. V. Dementyeva, E. S. Klimenko, J. M. Minina, S. M. Zakian, A. A. Kostareva
{"title":"诱导多能干细胞系 ICGi046-A 的产生：一名携带与 RAS 病相关的 RAF1 致病性 p.Ser259Thr 变体的患者","authors":"E. V. Dementyeva, E. S. Klimenko, J. M. Minina, S. M. Zakian, A. A. Kostareva","doi":"10.1134/s1062360423070032","DOIUrl":null,"url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Technology of generation of induced pluripotent stem cells followed by differentiation into relevant cell type allows obtaining cell models for studying various inherited human diseases. In the study, an induced pluripotent stem cell (iPSC) line (ICGi046-A) was generated as a result of reprogramming of mononuclear cells of a RASopathy patient carrying pathogenic c.775T>A (p.Ser259Thr) variant in <i>RAF1</i> to the pluripotent state. The ICGi046-A line demonstrated morphology characteristic of human pluripotent cells, normal karyotype (46,XY), expression of pluripotency markers (OCT4, NANOG, SOX2, TRA-1-60), and capacity to give rise to derivatives of three germ layers during spontaneous differentiation. The iPSC line can be used for studying molecular mechanisms of RASopathies.</p>","PeriodicalId":0,"journal":{"name":"","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Generation of an Induced Pluripotent Stem Cell Line ICGi046-A of a Patient Carrying Pathogenic p.Ser259Thr Variant in RAF1 Associated with RASopathy\",\"authors\":\"E. V. Dementyeva, E. S. Klimenko, J. M. Minina, S. M. Zakian, A. A. Kostareva\",\"doi\":\"10.1134/s1062360423070032\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<h3 data-test=\\\"abstract-sub-heading\\\">Abstract</h3><p>Technology of generation of induced pluripotent stem cells followed by differentiation into relevant cell type allows obtaining cell models for studying various inherited human diseases. In the study, an induced pluripotent stem cell (iPSC) line (ICGi046-A) was generated as a result of reprogramming of mononuclear cells of a RASopathy patient carrying pathogenic c.775T>A (p.Ser259Thr) variant in <i>RAF1</i> to the pluripotent state. The ICGi046-A line demonstrated morphology characteristic of human pluripotent cells, normal karyotype (46,XY), expression of pluripotency markers (OCT4, NANOG, SOX2, TRA-1-60), and capacity to give rise to derivatives of three germ layers during spontaneous differentiation. The iPSC line can be used for studying molecular mechanisms of RASopathies.</p>\",\"PeriodicalId\":0,\"journal\":{\"name\":\"\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0,\"publicationDate\":\"2024-03-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1134/s1062360423070032\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1134/s1062360423070032","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Generation of an Induced Pluripotent Stem Cell Line ICGi046-A of a Patient Carrying Pathogenic p.Ser259Thr Variant in RAF1 Associated with RASopathy
Abstract
Technology of generation of induced pluripotent stem cells followed by differentiation into relevant cell type allows obtaining cell models for studying various inherited human diseases. In the study, an induced pluripotent stem cell (iPSC) line (ICGi046-A) was generated as a result of reprogramming of mononuclear cells of a RASopathy patient carrying pathogenic c.775T>A (p.Ser259Thr) variant in RAF1 to the pluripotent state. The ICGi046-A line demonstrated morphology characteristic of human pluripotent cells, normal karyotype (46,XY), expression of pluripotency markers (OCT4, NANOG, SOX2, TRA-1-60), and capacity to give rise to derivatives of three germ layers during spontaneous differentiation. The iPSC line can be used for studying molecular mechanisms of RASopathies.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
