{"title":"利用人诱导多能干细胞建立腓骨肌病体外疾病模型。","authors":"Xing Liu, Kei-Ichi Ishikawa, Nobutaka Hattori, Wado Akamatsu","doi":"10.14789/ejmj.JMJ24-0046-R","DOIUrl":null,"url":null,"abstract":"<p><p>Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary neuropathy caused by the duplication of the PMP22 gene, leading to Schwann cell dysfunction and peripheral demyelination. We developed a Schwann cell lineage model derived from induced pluripotent stem cells (iPSCs) obtained from a CMT1A patient. This model exhibited disease-specific phenotypes, providing a valuable platform for investigating the pathophysiology of CMT1A and exploring therapeutic strategies.</p>","PeriodicalId":520470,"journal":{"name":"Juntendo medical journal","volume":"71 3","pages":"156-157"},"PeriodicalIF":0.0000,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12257218/pdf/","citationCount":"0","resultStr":"{\"title\":\"Establishment of an In Vitro Disease Model of Charcot-Marie-Tooth Disease using Human Induced Pluripotent Stem Cells.\",\"authors\":\"Xing Liu, Kei-Ichi Ishikawa, Nobutaka Hattori, Wado Akamatsu\",\"doi\":\"10.14789/ejmj.JMJ24-0046-R\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary neuropathy caused by the duplication of the PMP22 gene, leading to Schwann cell dysfunction and peripheral demyelination. We developed a Schwann cell lineage model derived from induced pluripotent stem cells (iPSCs) obtained from a CMT1A patient. This model exhibited disease-specific phenotypes, providing a valuable platform for investigating the pathophysiology of CMT1A and exploring therapeutic strategies.</p>\",\"PeriodicalId\":520470,\"journal\":{\"name\":\"Juntendo medical journal\",\"volume\":\"71 3\",\"pages\":\"156-157\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-05-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12257218/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Juntendo medical journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14789/ejmj.JMJ24-0046-R\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Juntendo medical journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14789/ejmj.JMJ24-0046-R","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
Establishment of an In Vitro Disease Model of Charcot-Marie-Tooth Disease using Human Induced Pluripotent Stem Cells.
Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary neuropathy caused by the duplication of the PMP22 gene, leading to Schwann cell dysfunction and peripheral demyelination. We developed a Schwann cell lineage model derived from induced pluripotent stem cells (iPSCs) obtained from a CMT1A patient. This model exhibited disease-specific phenotypes, providing a valuable platform for investigating the pathophysiology of CMT1A and exploring therapeutic strategies.
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