{"id":"hum0508","version":1,"url":"https://humandbs.dbcls.jp/research/hum0508/v1","datePublished":"2025-06-04","versions":[{"version":1,"datePublished":"2025-06-04"}],"title":{"ja":"疾患特異的iPS細胞を用いた眼疾患の発症機序の解明および治療法の探索","en":"Elucidation of the pathogenesis of ocular diseases and exploration of therapeutic strategies using disease-specific iPS cells"},"summary":{"aims":{"ja":"患者の体細胞より疾患特異的iPS細胞を樹立し、眼発生モデル系へと誘導することによってin vitroで眼発生期を模し、通常の主要器官の形成期に外挿される分化誘導時点で見られる表現型および取得される細胞集団の詳細な解析を行うことで、病態の解明および治療法の探索研究を行う。この研究により、これまで未解明であった眼疾患の詳細な発症原因・機序の一端が解明されることが期待される。","en":"We will establish disease-specific iPS cells from patient somatic cells and induce them into an ocular developmental model system to mimic the ocular developmental stage in vitro, and conduct detailed analysis of the phenotype and cell population obtained at the time of differentiation induction, which is extrapolated to the normal stage of formation of major organs. This research will help to elucidate the pathogenesis of the disease and to search for therapeutic methods. This research is expected to elucidate the detailed pathogenesis and mechanisms of ocular diseases that have remained unexplored until now."},"methods":{"ja":"single-cell RNA-seq","en":"single-cell RNA-seq"},"targets":{"ja":"培養自家口腔粘膜上皮シート移植術の際に採取した、先天性無虹彩症の左眼角膜中央透明部および輪部の上皮細胞","en":"Epithelial tissues were collected from the clear central corneal region and the limbus of a patient with congenital aniridia during cultivated oral mucosal epithelial transplantation (COMET) surgery. The tissues were obtained by gentle scraping using a scalpel."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"先天性無虹彩症：1症例\n（日本人）","en":"1 congenital aniridia\n(Japanese)"},"typeOfData":{"ja":"NGS\n（scRNA-seq）","en":"NGS\n(scRNA-seq)"}},"releaseNote":{"ja":"先天性無虹彩症の角膜中央透明部および輪部の上皮細胞から抽出したRNAを用いたsingle cell RNA-seq解析データをfastqおよびbamファイルにて提供する。","en":"RNAs extracted from epithelial tissues collected from the clear central corneal region and the limbus of a patient with congenital aniridia were used for single cell RNA-seq analysis. Fastq and bam files are provided."},"dataProviders":[{"name":{"ja":"西田 幸二","en":"Kohji Nishida"},"organization":{"name":{"ja":"大阪大学 脳神経感覚器外科学（眼科学）","en":"Department of Ophthalmology, Graduate School of Medicine, Osaka University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"幹細胞システムに基づく4次元眼組織リモデリング機構とその破綻による疾患発症機序の解明","en":"Stem cell system-based four dimensional ocular tissue remodeling in homeostatic and pathological states"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的先端研究開発支援事業","en":"Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18gm1210004"]},{"title":{"ja":"無虹彩症に生じる眼異常の発症機構の解明と治療法の開発","en":"Elucidation of pathogenesis and development of therapeutics in aniridia using disease-specific iPS cells"},"agency":{"ja":"日本医療研究開発機構（AMED） 再生医療実現拠点ネットワークプログラム","en":"Research Center Network for Realization of Regenerative Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22bm0804021"]}],"relatedPublications":[{"title":"Transcriptional landscape of aniridia-associated keratopathy through single-cell RNA sequencing","doi":"https://doi.org/10.1016/j.jtos.2025.05.008","datasets":["JGAD000932"]}],"datasets":["JGAD000932"],"controlledAccessUsers":[]}