{"id":"hum0404","version":1,"url":"https://humandbs.dbcls.jp/research/hum0404/v1","datePublished":"2025-09-30","versions":[{"version":1,"datePublished":"2025-09-30"}],"title":{"ja":"循環器疾患のゲノム解析技術、iPS細胞技術、ゲノム編集技術を用いた病態解明ならびに治療法開発研究 / 循環器疾患患者由来iPS細胞を用いた病態解明ならびに新規医療技術開発研究","en":"Elucidation of pathology and therapeutic development using genome analysis, iPS cells, and genome editing for cardiovascular diseases / Elucidation of pathology and development of novel medical technology using iPS cells derived from patients with cardiovascular disease"},"summary":{"aims":{"ja":"重症心不全をはじめとする種々の循環器疾についてゲノム解析を実施し、病態に関係すると考えられる遺伝子多型を同定することにより、循環器疾患の病態解明・新規治療介入の開発をおこなう。iPS細胞を用いた解析においては、遺伝子多型と表現型の対応を検討するため、CRISPR/Cas9システムなどのゲノム編集技術を用いた変異修復を行うことで、表現型への影響を確認する。","en":"In this study, we analyze the genomic information of samples from patients with various cardiovascular diseases, including severe heart failure, and identify genetic mutations and polymorphisms that are thought to be related to the pathology of cardiovascular diseases. The purpose is to elucidate the underlying mechanism and develop new therapeutic interventions. The source of the genome to be analyzed is mainly peripheral blood, but in some cases, the genome extracted from the myocardial tissue obtained by myocardial biopsy or iPS cells generated from the patient is also used. In the analysis using iPS cells, we repair genetic mutation using genome editing technology such as CRISPR/Cas9 and analyze the pathological phenotypes."},"methods":{"ja":"【scRNA-seq】心筋症症例の末梢血から樹立したiPS細胞由来分化心筋細胞に、GFP（コントロール）またはS-RBD-sfGFPを添加後48時間で細胞を回収し、シングルセルRNAシークエンス解析を実施した\n【WGS】心筋症症例の末梢血から抽出したDNAを用いた全ゲノムシークエンス","en":"[scRNA-seq] GFP (Control) or S-RBD-sfGFP was added to iPS cell-derived cardiomyocytes and after 48 hours the cells were collected and single-cell RNA sequence analysis was performed.\n[WGS] Genomic DNA was extracted from the peripheral blood cells of cardiomyopathy cases and performed whole genome sequencing analysis."},"targets":{"ja":"心筋症1症例から樹立したiPS細胞由来分化心筋細胞、および、心筋症3症例の末梢血","en":"iPS cell-derived cardiomyocytes established from a cardiomyopathy case, peripheral blood cells of 3 cardiomyopathy cases"},"url":{"ja":[{"url":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=33635","text":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=33635"}],"en":[{"url":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=34330","text":"http://www.cardiology.med.osaka-u.ac.jp/?page_id=34330"}]}},"listingSummary":{"methods":{"ja":"発現\n配列決定","en":"Expression profiling, Sequencing"},"targets":{"ja":"心筋症：4症例\n（日本人）","en":"cardiomyopathy: 4 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（scRNA-seq、WGS）","en":"NGS\n(scRNA-seq, WGS)"}},"releaseNote":{"ja":"・心筋症1症例から樹立したiPS細胞由来分化心筋細胞に、GFPまたはS-RBD-sfGFPを添加し48時間後に回収した細胞から抽出したRNAを用いた、シングルセルRNA-seq解析データをfastq、barcodes.tsv.gz、features.tsv.gz、matrix.mtx.gzファイル形式で提供する。\n・心筋症3症例の末梢血から抽出したDNAを用いた、全ゲノムシークエンス解析データをfastqファイル形式で提供する。","en":"- RNAs extracted from the cells collected after 48 hours from adding GFP or S-RBD-sfGFP to iPS cell-derived cardiomyocytes generated from a cardiomyopathy case were used for single-cell RNA-sequencing analysis. Fastq, barcodes.tsv.gz, features.tsv.gz and matrix.mtx.gz files are provided.\n- DNAs extracted from peripheral blood of 3 cardiomyopathy cases were used for whole genome sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"肥後 修一朗","en":"Shuichiro Higo"},"organization":{"name":{"ja":"大阪大学 大学院医学系研究科 循環器内科学 重症心不全内科治療学共同研究講座","en":"Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[],"relatedPublications":[{"title":"SARS-CoV-2 spike receptor-binding domain is internalized and promotes protein ISGylation in human induced pluripotent stem cell-derived cardiomyocytes","doi":"https://doi.org/10.1038/s41598-023-48084-7","datasets":["E-GEAD-628"]}],"datasets":["JGAD000749","E-GEAD-628","JGAD000837","JGAD000838","JGAD000839"],"controlledAccessUsers":[]}