{"id":"hum0116","version":1,"url":"https://humandbs.dbcls.jp/research/hum0116/v1","datePublished":"2020-11-20","versions":[{"version":1,"datePublished":"2020-11-20"},{"version":2,"datePublished":"2025-12-04"}],"title":{"ja":"ヒト化マウス（humanized mouse） の作製と免疫学研究への応用","en":"Development of hunanized mice for human immunity research"},"summary":{"aims":{"ja":"ヒト急性骨髄性白血病関連遺伝子変異の同定","en":"Identification of somatic mutations associated with acute myeloid leukemia (AML) pathogenesis."},"methods":{"ja":"Target Captureシークエンシング（Acute Myeloid Leukemia Cancer Panel、ならびに、41遺伝子）","en":"Target Capture sequencing (Acute Myeloid Leukemia Cancer Panel and 41 genes)"},"targets":{"ja":"急性骨髄性白血病症例より採取した白血病幹細胞、ならびに、白血病幹細胞を輸注した免疫不全マウスの内、白血病を発症したヒト化マウスから採取したヒト白血病細胞","en":"Leukemia stem cells from AML patients or humanized mice with leukemia derived from immune deficiency mice which were infused with human leukemia stem cells"},"url":{"ja":[{"url":"https://www.riken.jp/research/labs/ims/hum_dis_model/","text":"https://www.riken.jp/research/labs/ims/hum_dis_model/"}],"en":[{"url":"https://www.riken.jp/en/research/labs/ims/hum_dis_model/","text":"https://www.riken.jp/en/research/labs/ims/hum_dis_model/"}]}},"listingSummary":{},"releaseNote":{"ja":"・急性骨髄性白血病（AML）19症例から採取した白血病幹細胞、Pre-白血病幹細胞、T細胞、B細胞、および、19症例のうち12症例から作製した白血病ヒト化マウスから採取したヒト白血病細胞を用いたAML Cancer panel（NGS）データをfastqファイルにて提供する。KAPA Hyper Prep kitおよびxGen® Acute Myeloid Leukemia Cancer Panelにてライブラリー作成後、HiSeq 1500にて平均長50bpのDNA断片を解読した（Single-end）。\n・急性骨髄性白血病106症例の末梢血もしくは骨髄液、細胞検体を移植し白血病を発症したマウスの骨髄液もしくは脾臓細胞（全て白血病細胞）から抽出したDNAを用いたTarget Captureシークエンシング解析データをfastqファイルにて提供する。対象領域となる41遺伝子領域を7つに分けてデザインしたプライマーを用いたmultiplex PCRを行い、2nd PCRでそれぞれ異なるバーコードを付けてDNAライブラリー作成後poolし、HiSeq 2500にてpaired-endで解読した。","en":"- DNAs extracted from leukemia stem cells, pre-leukemia stem cells, T-cell, B-cells, and leukemia stem cells from humanized mice were used for the Target Capture sequencing analysis (fastq files). Libraries were prepared by using of KAPA Hyper Prep kit and xGen® Acute Myeloid Leukemia Cancer Panel and sequenced by HiSeq 1500 (single-end: 50 bp).\n- DNAs extracted from peripheral blood, bone marrow aspirate from AML patients and human leukemia cells from spleen and bone marrow aspirate of humanized mice with leukemia derived from immune deficiency mice which were infused with peripheral blood, bone marrow aspirate or samples from patients with AML were used for the Target Capture sequencing analysis (fastq files). 1st PCR was performed to amplify target regions from blood derived or manipulated DNAs, followed by the 2nd PCR to add 8-bp barcode and adapter sequences. Then, DNA libraries were sequenced by HiSeq 2500 (paired-end)."},"dataProviders":[{"name":{"ja":"石川 文彦","en":"Fumihiko Ishikawa"},"organization":{"name":{"ja":"理化学研究所統合生命医科学センター・ヒト疾患モデル研究チーム","en":"Laboratory for Human Disease Models, Riken Center for Integrative Medical Sciences"}}}],"researchProjects":[{"name":{"ja":"白血病再発克服プロジェクト","en":"Target AML project"},"url":{"ja":null,"en":null}}],"grants":[],"relatedPublications":[{"title":"Overcoming mutational complexity in acute myeloid leukemia by inhibition of critical pathways","doi":"https://doi.org/10.1126/scitranslmed.aao1214","datasets":["JGAD000133"]},{"title":"Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive Acute Myeloid Leukemia","doi":"https://doi.org/10.1038/s43018-021-00177-w","datasets":["JGAD000355"]}],"datasets":["JGAD000133","JGAD000355"],"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":["JGAD000133","JGAD000355","JGAD000990"]}]}