{"id":"hum0139","version":1,"url":"https://humandbs.dbcls.jp/research/hum0139/v1","datePublished":"2018-07-10","versions":[{"version":1,"datePublished":"2018-07-10"}],"title":{"ja":"疾患特異的iPS細胞を用いた創薬・疾患研究","en":"Research for drug discovery and elucidation of pathophysiology using disease-specific iPS cells"},"summary":{"aims":{"ja":"人工多能性幹細胞の未分化性維持および分化指向性におけるKRAS分子が果たす役割を解明する","en":"To address how status of KRAS in iPS cells impacts upon self-renewal and differentiation propensity"},"methods":{"ja":"罹患細胞にKRAS G13C 変異を有するRAS 関連自己免疫性リンパ球増殖症候群様疾患（RALD） 患者骨髓よりiPS細胞を樹立し、同時に変異を有さない対照健常株を得て、未分化維持、分化誘導等の条件下で分子生物学的手法により特性比較を行った。尚、本疾患の KRAS 変異は後天性に獲得されるため、同一患者骨髄中にKRAS変異(-)細胞とKRAS変異細胞が共存しており、本研究で用いた2つのiPS細胞クローンはいずれも患者由来である。","en":"Roles of KRAS on stemness were investigated in the context of induced pluripotent stem cells (iPSCs). KRAS mutant (G13C/WT) and wild-type isogenic (WT/WT) iPSCs from a Ras-associated autoimmune leukoproliferative disorder (RALD) patient were used. Retention of self-renewal and capacity for neuronal differentiation were compared."},"targets":{"ja":"1名のRALD患者骨髓細胞より同時に樹立したiPS細胞クローン：KRAS変異株1、KRAS変異(-)健常株1（いずれも患者由来）。iPS 細胞を未分化条件のまま、KRAS変異株・対照健常株それぞれ1検体ずつExome 解析を行った。","en":"A RALD patient-derived iPSC clones (one with KRAS G13C mutation and the other one with no mutation derived from the same patient)."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"RALD患者：1症例\n（日本人）","en":"1 RALD patient\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"1症例のRALD患者骨髓細胞より樹立したiPS細胞クローン（KRAS変異株およびKRAS変異[-]健常株）それぞれの細胞から抽出したDNAを用いたExome解析の結果をfastqおよびbamファイルにて提供する。SureSelect Human All Exon V5を用いてExon領域にしぼりIllumina [HiSeq 1500]にて配列を読んだ（Paired-end: 100 bp x 2）。","en":"DNAs extracted from KRAS mutant (G13C/WT) and wild-type isogenic (WT/WT) iPSCs extructed from a RALD patient were used for whole-exome sequence analysis (fastq and bam files). Exons were narrowed down by using of SureSelect Human All Exon V5 and read by Illumina [HiSeq 1500] (paired-end: 100 bp x 2)."},"dataProviders":[{"name":{"ja":"大津 真","en":"Makoto Otsu"},"organization":{"name":{"ja":"東京大学・医科学研究所","en":"Institute of Medical Science, University of Tokyo"}}}],"researchProjects":[{"name":{"ja":"疾患特異的iPS細胞を活用した難病研究","en":"The program for intractable diseases research utilizing disease-specific iPS cells"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"疾患特異的iPS細胞を活用した難病研究","en":"The program for intractable diseases research utilizing disease-specific iPS cells"},"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":["JP16bm0609006","JP17bm0804004"]}],"relatedPublications":[{"title":"Status of KRAS in iPS cells impacts upon self-renewal and differentiation propensity.","doi":"https://doi.org/10.1016/j.stemcr.2018.06.008","datasets":["JGAD000205"]}],"datasets":["JGAD000205"],"controlledAccessUsers":[]}