{"id":"hum0249","version":1,"url":"https://humandbs.dbcls.jp/research/hum0249/v1","datePublished":"2020-09-01","versions":[{"version":1,"datePublished":"2020-09-01"},{"version":2,"datePublished":"2025-03-21"}],"title":{"ja":"硬組織・結合組織関連疾患患者由来iPS細胞を用いた病態解明と治療法開発","en":"Elucidation of pathological conditions and development of therapeutic methods using iPS cells derived from patients with hard tissue/connective tissue related diseases"},"summary":{"aims":{"ja":"硬組織・結合組織関連疾患患者由来iPS細胞を用いた疾患メカニズムの解明および治療法開発","en":"Elucidation of pathological conditions and development of therapeutic methods using iPS cells derived from patients with hard tissue/connective tissue related diseases"},"methods":{"ja":"疾患iPS細胞を用いたCap Analysis of Gene Expression（CAGE）-seq、single-cell RNA-seq、およびCUT＆RUN-seq","en":"Cap Analysis of Gene Expression (CAGE)-seq, single-cell RNA-seq, and CUT＆RUN-seq"},"targets":{"ja":"鎖骨頭蓋骨異形成症（RUNX2遺伝子の欠陥有）","en":"iPS cells derived from patients with hard tissue/connective tissue related diseases (genetic defect in RUNX2 positive)"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"鎖骨頭蓋骨異形成症2症例の頬粘膜線維芽細胞から樹立したiPS細胞から分化させた骨芽細胞、並びに、1症例の頬粘膜線維芽細胞から樹立したiPS細胞に対して遺伝子編集により変異を正常化させたiPS細胞から分化させた骨芽細胞、それぞれから抽出したRNAを用いたCAGE-seqデータをfastqファイルにて提供する。","en":"RNAs extracted from osteoblast differentiated from iPS cells derived from patients with hard tissue/connective tissue related diseases were used for CAGE-seq analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"東 俊文","en":"Toshifumi Azuma"},"organization":{"name":{"ja":"東京歯科大学 生化学講座","en":"Tokyo Dental College / Biochemistry"}}}],"researchProjects":[{"name":{"ja":"顎骨疾患プロジェクト","en":"Tokyo Dental College Research Branding Project"},"url":{"ja":[{"url":"https://www.tdc.ac.jp/research/projects/branding/","text":"https://www.tdc.ac.jp/research/projects/branding/"}],"en":null}}],"grants":[{"title":{"ja":"新概念に基づく骨芽細胞分化制御機構の解明と鎖骨頭蓋骨異形成症に対する治療薬の開発","en":"The osteoblast differentiation control mechanism based on a new concept"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["19K10063"]},{"title":{"ja":"疾患iPS細胞を用いたGNAS-cAMP経路の骨芽細胞分化石灰化メカニズム解明","en":"The osteoblast differentiation and calcification mechanism of GNAS-cAMP pathway using diseased iPS cells"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["18H03007"]},{"title":{"ja":null,"en":null},"agency":{"ja":"東京歯科大学顎骨疾患プロジェクト研究助成","en":"Tokyo Dental College Research Branding Project"},"grantIds":null}],"relatedPublications":[{"title":"CAGE-seq analysis of osteoblast derived from cleidocranial dysplasia human induced pluripotent stem cells","doi":"https://doi.org/10.1016/j.bone.2020.115582","datasets":["JGAD000348"]},{"title":"Intracellular tension generated by RUNX2-induced LINC complex formation creates a nuclear environment essential for bone differentiation","doi":null,"datasets":["JGAD000793"]}],"datasets":["JGAD000348"],"controlledAccessUsers":[]}