{"id":"hum0097","version":1,"url":"https://humandbs.dbcls.jp/research/hum0097/v1","datePublished":"2018-05-25","versions":[{"version":1,"datePublished":"2018-05-25"}],"title":{"ja":"骨髄不全症候群における血球の質に関する検討","en":"Cytogenetic analysis of hematopoietic cells in bone marrow failure syndrome"},"summary":{"aims":{"ja":"再生不良性貧血の病態解明","en":"To elucidate the pathogenicity of aplastic anemia with uniparental disomy in 6p"},"methods":{"ja":"エクソーム解析","en":"Exome sequence analysis"},"targets":{"ja":"第6染色体短腕の片親性ダイソミー陽性再生不良性貧血患者","en":"Patients with aplastic anemia with uniparental disomy in 6p"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"第6染色体短腕の片親性ダイソミー陽性再生不良性貧血：5症例\n（日本人）","en":"5 patients with aplastic anemia with uniparental disomy in 6p\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"第6染色体短腕の片親性ダイソミー陽性再生不良性貧血5症例の末梢血由来（LOH分画［6番染色体短腕において認められるuniparental disomy]および正常分画）と、口腔内粘膜から抽出したDNAを用いたExome解析の結果をFastqファイルにて提供する。SureSelect Human All Exon V5+UTRs Kit（Agilent）用いてExon領域にしぼりHiSeq 2500（Illumina）にて平均長101 bpのDNA断片を解読した（Paired-end）。","en":"DNAs extracted from peripheral blood cells and oral swab from 5 patients with aplastic anemia with uniparental disomy in 6p were used for the whole exome sequencing (fastq files).\nExons were narrowed down by using of SureSelect Human All Exon V5+UTRs Kit (Agilent) and read by HiSeq 2500 (Illumina) (paired-end: 101 bp)."},"dataProviders":[{"name":{"ja":"中尾 眞二","en":"Shinji Nakao"},"organization":{"name":{"ja":"金沢大学 医薬保健研究域 医学系 細胞移植学講座","en":"Cellular Transplantation Biology, Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University. Graduate School of Medical Sciences"}}}],"researchProjects":[],"grants":[{"title":{"ja":"再生不良性貧血におけるクローン性造血機序の解明","en":"Analysis of clonal hematopoiesis in patients with aplastic anemia"},"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":["16H05335"]},{"title":{"ja":"再生不良性貧血におけるゲノム異常を利用した造血抑制因子の同定","en":"Identification of hematopoiesis regulator with genomic abnormality in patients with aplastic anemia"},"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":["24390243"]}],"relatedPublications":[{"title":"Identification of an HLA class I allele closely involved in the autoantigen presentation in acquired aplastic anemia.","doi":"https://doi.org/10.1182/blood-2016-11-752378","datasets":null},{"title":"Clinical significance and origin of leukocytes that lack HLA-A allele expression in patients with acquired aplastic anemia.","doi":"https://doi.org/10.1016/j.exphem.2016.05.013","datasets":null},{"title":"Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia.","doi":"https://doi.org/10.1056/NEJMoa1414799","datasets":null},{"title":"Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia.","doi":"https://doi.org/10.1182/blood-2011-07-365189","datasets":null},{"title":"Sustained clonal hematopoiesis by HLA-lacking hematopoietic stem cells without driver mutations in aplastic anemia..","doi":"https://doi.org/10.1182/bloodadvances.2017013953","datasets":["JGAD000094"]}],"datasets":["JGAD000094"],"controlledAccessUsers":[]}