{"id":"hum0406","secondaryIds":[],"version":1,"url":"https://humandbs.dbcls.jp/research/hum0406/v1","datePublished":"2023-08-29","versions":[{"version":1,"datePublished":"2023-08-29"},{"version":2,"datePublished":"2026-03-30"}],"title":{"ja":"ヒト疾患特異的iPS細胞の作成とそれを用いた疾患解析に関する研究","en":"The Generation of Human Disease-Specific iPS Cells and the Use of Such iPS Cells for Disease Analysis"},"summary":{"aims":{"ja":"病態メカニズムの解明には患者の疾患部位を研究することが最も理想的だが、検体採取のために患者に大きな負担がかかるリスクや、技術的に不可能な場合があり、また採取できる量も限られていることから、繰り返し実験が行えないなどの問題があった。人工多能性幹細胞は、体を構成するさまざまな組織に分化することができる強力な技術であり、本研究計画では患者およびその家族の体細胞からiPS細胞を作り、臨床情報と合わせて病気の原因を調べたり、有効な治療法を見つけ出すことを目的としている。","en":"The ideal way of studying the disease is to use an affected part (tissue) of the patient's body. However, the use of the affected tissue involves many issues; for example, sampling of the affected tissue may impose a severe burden on the patient or is sometimes technically impossible. Therefore, iPS cells are a powerful technology that can differentiate into the various tissues that make up our bodies. The aim of this study is to generate iPS cells from patients' and/or their family members' somatic cells and to use them together with clinical information to discover more about the cause of the diseases and to develop new effective treatments."},"methods":{"ja":"フローサイトメトリーにより、誘導型2型肺胞上皮（iAT2）細胞（EpCAM+CPM+）と線維芽細胞（EpCAM-CPM-）を分離し、抽出したtotal RNAを用いたRNA-seq解析を実施した。","en":"Patient iPSC-derived type 2 alveolar epithelial (iAT2) cells (EpCAM+CPM+) and fibroblasts (EpCAM-CPM-) were isolated by fluorescence-activated cell sorting. Total RNA was extracted from the cells and sequenced."},"targets":{"ja":"Surfactant protein C遺伝子（SFTPC）バリアントにおける家族性間質性肺炎 1症例\n1: 患者血液から樹立したiPS細胞由来肺胞オルガノイドのEpCAM+CPM+細胞\n2: 患者血液から樹立したiPS細胞由来肺胞オルガノイドのEpCAM-CPM-細胞\n3: 患者血液から樹立した修復iPS細胞由来肺胞オルガノイドのEpCAM+CPM+細胞\n4: 患者血液から樹立した修復iPS細胞由来肺胞オルガノイドのEpCAM-CPM-細胞","en":"- EpCAM+CPM+ or EpCAM-CPM- cells of alveolar organoids derived from iPSCs established from PBMCs of a familial interstitial pneumonia patient with Y104H variant of SFTPC\n- EpCAM+CPM+ or EpCAM-CPM- cells of Y104H-KO iPSC-derived alveolar organoids established from PBMCs of the patient with Y104H variant of SFTPC"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"SFTPCバリアントにおける家族性間質性肺炎1症例の患者血液から樹立したiPS細胞由来肺胞オルガノイドおよび修復iPS細胞由来肺胞オルガノイドより単離した誘導型2型肺胞上皮（iAT2）細胞（EpCAM+CPM+）と線維芽細胞（EpCAM-CPM-）より抽出したRNAを用いたRNA-seq解析結果をfastq、csvファイルにて提供する。","en":"RNAs extracted from EpCAM+CPM+ (iAT cells) or EpCAM-CPM- (fibroblast cells) derived from iPSCs established from PBMCs of a patient with Y104H variant of SFTPC were used for RNA-seq analysis. Sequencing data and analyzed data (fastq and csv files) are provided."},"dataProviders":[{"name":{"ja":"後藤 慎平","en":"Shimpei Gotoh"},"organization":{"name":{"ja":"京都大学 iPS細胞研究所 臨床応用研究部門","en":"Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"ヒトiPS細胞を用いた呼吸器難病の病態機序の解明と新規創薬基盤の確立","en":"Application of human iPS cells for disclosing the pathogenic mechanisms of intractable respiratory diseases and finding novel therapeutic agents"},"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":["JP17bm0804007"]}],"relatedPublications":[{"title":"Cryptotanshinone is a candidate therapeutic agent for interstitial lung disease associated with a BRICHOS-domain mutation of SFTPC","doi":"https://doi.org/10.1016/j.isci.2023.107731","datasets":["JGAD000746","E-GEAD-623"]}],"datasets":["JGAD000746","E-GEAD-623"],"controlledAccessUsers":[]}