{"id":"hum0221","version":1,"url":"https://humandbs.dbcls.jp/research/hum0221/v1","datePublished":"2023-07-28","versions":[{"version":1,"datePublished":"2023-07-28"}],"title":{"ja":"ヒト疾患特異的iPS細胞を用いた遺伝子解析研究","en":"Genetic study using human disease-specific iPS cells"},"summary":{"aims":{"ja":"遺伝子発現解析","en":"Gene expression analysis"},"methods":{"ja":"iPS細胞株より抽出したRNAを用いたRNA-seq解析","en":"RNA-seq for a cellular RNA"},"targets":{"ja":"ファブリー病（小児先天性代謝異常）2症例より樹立したiPS細胞3株","en":"Fabry disease"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"ファブリー病患者由来iPS細胞株：3検体\n（細胞株）","en":"iPS cells derived from Fabry disease patients: 3 samples\n(Cell-line)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"ファブリー病症例の末梢血から樹立したiPS細胞から抽出したRNAを用いたRNA-seq解析の結果をfastqおよびtxt（Transcripts Per Million）ファイルにて提供する。","en":"RNAs extracted from iPS cells derived from Fabry disease patients were used for RNA-sequencing analysis. Fastq and txt (Transcripts Per Million) files are provided."},"dataProviders":[{"name":{"ja":"粟屋 智就","en":"Tomonari Awaya"},"organization":{"name":{"ja":"京都大学大学院 医学研究科 形態形成機構学研究室","en":"Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"スプライシング操作化合物を対象としたファーマコゲノミクス解析に基づく遺伝性難病治療薬の開発研究","en":"Development of genetic disease medicine by pharmacogenomics analysis ofspliceswitching compounds"},"agency":{"ja":"日本医療研究開発機構（AMED） ゲノム創薬基盤推進研究事業","en":"Program for Promoting Platform of Genomics based Drug Discovery, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18kk0305003"]}],"relatedPublications":[],"datasets":["JGAD000316"],"controlledAccessUsers":[]}