{"id":"hum0107","version":2,"url":"https://humandbs.dbcls.jp/research/hum0107/v2","datePublished":"2020-06-01","versions":[{"version":1,"datePublished":"2017-10-02"},{"version":2,"datePublished":"2020-06-01"}],"title":{"ja":"基底細胞母斑症候群患者からのinduced pluripotent stem （iPS）細胞の樹立および病態の解明、骨移植への臨床応用","en":"Establish induced pluripotent stem (iPS) cells from patients with Gorlin syndrome and elucidate the pathology"},"summary":{"aims":{"ja":"基底細胞母斑症候群の原因変異の同定及び変異遺伝子の解析","en":"Identification of cause mutations and analysis of novel mutated genes of Gorlin syndrome"},"methods":{"ja":"口腔粘膜の線維芽細胞および口腔粘膜組織よりDNAを抽出し、Whole Exome Sequencingを実施。\n口腔粘膜の線維芽細胞および線維芽細胞セルラインより樹立したiPS細胞から分化した骨芽細胞よりRNAを抽出し、RNA Sequencingを実施。","en":"Exome sequence analysis, RNA sequence analysis"},"targets":{"ja":"ヒトの基底細胞母斑症候群4症例","en":"Patients with Gorlin syndrome : 4 cases"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"基底細胞母斑症候群：4症例\n（日本人）","en":"4 patients with Gorlin syndrome\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"このバージョンでは、基底細胞母斑症候群1症例の口腔粘膜由来の線維芽細胞および線維芽細胞セルラインより樹立したiPS細胞から分化した骨芽細胞各3サンプルから抽出したRNAを用いたRNA-seq解析の結果をFastqファイルにて提供する。HiSeq SBS Kit v4を用いてライブラリを作成しHiSeq 2500にて平均長125bpのRNA断片を解読した（Paired-end）。","en":"RNAs extracted from osteoblast differentiated from iPS cells established from oral mucosa fibroblast from 1 patient with Gorlin syndrome or fibroblast cell line were used for the RNA sequencing (fastq files).\nLibraries were prepared by using of HiSeq SBS Kit v4 and read by HiSeq 2500 (paired-end: 125 bp)."},"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 Collage department of 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":"疾患特異的iPS細胞を用いたGorlin症候群の病態機序の解明","en":"Elucidation of the pathological mechanism of Gorlin syndrome using disease-specific iPS cells"},"agency":{"ja":"科学研究費助成事業 若手研究（B）","en":"KAKENHI Grant-in-Aid for Young Scientists (B)"},"grantIds":["16K20427"]},{"title":{"ja":"疾患特異的iPS細胞を用いた鎖骨頭蓋異形成症の病態解明","en":"Elucidation of the pathophysiology of Cleidocranial dysplasia using disease-specific iPS cells"},"agency":{"ja":"科学研究費助成事業 若手研究（B）","en":"KAKENHI Grant-in-Aid for Young Scientists (B)"},"grantIds":["16K20428"]},{"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":"Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype","doi":"https://doi.org/10.1371/journal.pone.0184702","datasets":["JGAD000099"]},{"title":"Hedgehog activation regulates human osteoblastogenesis.","doi":"https://doi.org/10.1016/j.stemcr.2020.05.008","datasets":["JGAD000304"]}],"datasets":["JGAD000099","JGAD000304"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"浜田 道昭","en":"Michiaki Hamada"},"affiliation":{"ja":"浜田研究室, 理工学術院, 早稲田大学","en":"Hamada Laboratory, Faculty of Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"RNA標的創薬データベースの構築","en":"Construction of RNA-targeted Drug Discovery Database"},"periodStart":"2023-01-05","periodEnd":"2027-10-31","datasets":["JGAD000304"]}]}