Mohamed M Bekhite, Sascha Hübner, Tom Kretzschmar, Claudia Backsch, Anja Weise, Elisabeth Klein, Jürgen Bogoviku, Julian Westphal, P Christian Schulze
{"title":"从法布里病患者和健康供体（UKJi004-A）中产生人诱导多能干细胞系（UKJi003-A）。","authors":"Mohamed M Bekhite, Sascha Hübner, Tom Kretzschmar, Claudia Backsch, Anja Weise, Elisabeth Klein, Jürgen Bogoviku, Julian Westphal, P Christian Schulze","doi":"10.1016/j.scr.2024.103620","DOIUrl":null,"url":null,"abstract":"<p><p>Fabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the GLA (Galactosidase Alpha) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) in tissues and organs. Peripheral blood mononuclear cells (PBMCs) were used to generate human induced pluripotent stem cells (hiPSC). UKJi004-A was produced from a healthy donor, whereas UKJi003-A was produced from a patient who had FD with GLA-mutation (IVS6-10G>A). To generate UKJi003-A and UKJi004-A, non-integrating Sendai virus (SeV) vectors expressing four reprogramming factors, OCT4, SOX2, KLF4, and cMYC, were introduced into PBMCs. The pluripotency of the hiPSC lines was confirmed after reprogramming.</p>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"82 ","pages":"103620"},"PeriodicalIF":0.8000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A).\",\"authors\":\"Mohamed M Bekhite, Sascha Hübner, Tom Kretzschmar, Claudia Backsch, Anja Weise, Elisabeth Klein, Jürgen Bogoviku, Julian Westphal, P Christian Schulze\",\"doi\":\"10.1016/j.scr.2024.103620\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Fabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the GLA (Galactosidase Alpha) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) in tissues and organs. Peripheral blood mononuclear cells (PBMCs) were used to generate human induced pluripotent stem cells (hiPSC). UKJi004-A was produced from a healthy donor, whereas UKJi003-A was produced from a patient who had FD with GLA-mutation (IVS6-10G>A). To generate UKJi003-A and UKJi004-A, non-integrating Sendai virus (SeV) vectors expressing four reprogramming factors, OCT4, SOX2, KLF4, and cMYC, were introduced into PBMCs. The pluripotency of the hiPSC lines was confirmed after reprogramming.</p>\",\"PeriodicalId\":21843,\"journal\":{\"name\":\"Stem cell research\",\"volume\":\"82 \",\"pages\":\"103620\"},\"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.2024.103620\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/12/3 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.2024.103620","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/3 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A).
Fabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the GLA (Galactosidase Alpha) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) in tissues and organs. Peripheral blood mononuclear cells (PBMCs) were used to generate human induced pluripotent stem cells (hiPSC). UKJi004-A was produced from a healthy donor, whereas UKJi003-A was produced from a patient who had FD with GLA-mutation (IVS6-10G>A). To generate UKJi003-A and UKJi004-A, non-integrating Sendai virus (SeV) vectors expressing four reprogramming factors, OCT4, SOX2, KLF4, and cMYC, were introduced into PBMCs. The pluripotency of the hiPSC lines was confirmed after reprogramming.
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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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