{"id":"hum0231","secondaryIds":[],"version":2,"url":"https://humandbs.dbcls.jp/research/hum0231/v2","datePublished":"2026-11-06","versions":[{"version":1,"datePublished":"2024-07-22"},{"version":2,"datePublished":"2026-11-06"}],"title":{"ja":"ヒト疾患特異的iPS細胞樹立に関する研究","en":"A study for the establishment of disease-specific iPS cells."},"summary":{"aims":{"ja":"何らかの疾患に罹患した患者や対照健常者由来試料と情報を協力機関である他医療機関から提供を受け、本学にてヒトiPS細胞を樹立し、その特性を評価した上で細胞バンクへの寄託を行うことで、iPS細胞の整備・拡充を図る。これにより、疾患特異的iPS細胞を用いた疾患原因研究・疾患治療研究疾患解析・治療法開発疾患病態解析、治療法開発を推進すると共に研究基盤を構築する。","en":"We receive patient samples and information from various diseases, as well as samples from healthy controls serving as reference groups, from collaborating medical institutions. At our university, we establish human iPS cells from these samples. After evaluating their characteristics, we deposit these cells in a bank, maintaining and expanding the collection. This enables us to advance disease-specific iPS cell research into disease causation, disease treatment, disease analysis, and therapeutic development. It also facilitates the analysis of disease pathologies and the development of treatments, while establishing a research infrastructure."},"methods":{"ja":"WES\nサンプルより抽出したDNAを超音波により断片化した後、SureSelect Human All Exon V6 にてライブラリを作製し、HiSeq 2500により100 bpのペアエンドリードのシーケンスを実施した。\nRNA-seq\nSMART-Seq v4 Ultra Low Input RNA Kit for Sequencingを用いて逆転写を行い、Covers Focused-ultrasonicator M220でcDNAを断片化した後、SMARTer ThruPLEX DNA-seq Kitでライブラリを作製した。NextSeq 500により75 bpのシングルエンドリードのシーケンスを実施した。\nChIP-seq\n1%ホルムアルデヒド溶液でクロスリンク処理を行い、ゲノムを断片化した。抗体2.5 μgを結合させたビーズと4 ℃で一晩インキュベートし、wash後65 ℃で逆クロスリンクした。SMARTer ThruPLEX DNA-seq Kitを用いてライブラリを調製し、NextSeq 500により75 bpのシングルエンドリードでシーケンスを実施した。","en":"WES\nDNA extracted from PBMC was fragmented using a ultrasonicator,  and libraries were prepared using the SureSelect Human All Exon V6  (Agilent Technologies). Sequencing was carried out on a HiSeq 2500 system (Illumina) with 100-bp pair-end reads.\nRNA-seq\nReverse transcription was performed using the SMART-Seq v4 Ultra Low Input RNA Kit for Sequencing (Takara). The resulting cDNA was fragmented using a Covaris Focused-ultrasonicator M220 (M&S Instruments Inc.), and libraries were prepared using the SMARTer ThruPLEX DNA-seq Kit (Takara). Sequencing was carried out on a NextSeq 500 system (Illumina) with 75-bp single-end reads.\nChIP-seq\nCells were cross-linked with 1% formaldehyde solution, and genomic DNA was fragmented. The samples were incubated overnight at 4 °C with magnetic beads conjugated with 2.5 μg of antibody. After washing, reverse cross-linking was performed at 65 °C. Libraries were prepared using the SMARTer ThruPLEX DNA-seq Kit (Takara) and sequenced on a NextSeq 500 system (Illumina) with 75-bp single-end reads."},"targets":{"ja":"健常人ドナー120名の末梢血単核球、健常人ドナー2名由来のiPS細胞（ゲノム編集株を含む）から分化させた単球およびマクロファージ","en":"PBMC from 120 healthy donors, Monocytes and macrophages differentiated from iPS cells (including genome-edited strains) derived from 2 healthy donors"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現\nヒストン修飾","en":"Sequencing\nExpression profiling\nHistone modification"},"targets":{"ja":"健常人：120＋2名\n（日本人）","en":"120 + 2 Healthy volunteers\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq、ChIP-seq）","en":"NGS\n(Exome, RNA-seq, ChIP-seq)"}},"releaseNote":{"ja":"健常人ドナー2名由来のiPS細胞（ゲノム編集株を含む）から分化させた単球およびマクロファージから抽出したRNA/DNAを用いたRNA-seqおよびChIP-seq解析データをfastqファイルにて提供する。","en":"RNAs/DNAs extracted from monocytes and macrophages differentiated from iPS cells (including genome-edited strains) derived from 2 healthy donors were used for RNA-seq and ChIP-seq analyses. Fastq files are provided."},"dataProviders":[{"name":{"ja":"齋藤 潤","en":"Megumu K. Saito"},"organization":{"name":{"ja":"京都大学iPS細胞研究所","en":"Center for iPS cell resarch and application, Kyoto University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"疾患特異的iPS細胞樹立促進のための基盤形成","en":"Fundamental research of promote establishment of disease-specific iPS cells"},"agency":{"ja":"日本医療研究開発機構（AMED） 疾患特異的iPS細胞の利活用促進・難病研究加速プログラム","en":"The Program for Intractable Diseases Research utilizing Disease-specific iPS cells, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP16bm0609001"]},{"title":{"ja":"日本人健常人集団由来iPS細胞株の構築","en":"Construction of comprehensive iPSC library on Japanese healthy donors"},"agency":{"ja":"日本医療研究開発機構（AMED） 疾患特異的iPS細胞の利活用促進・難病研究加速プログラム","en":"The Program for Intractable Diseases Research utilizing Disease-specific iPS cells, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP19bm0804001"]},{"title":{"ja":null,"en":null},"agency":{"ja":"京都大学iPS細胞研究所 iPS細胞研究基金","en":"iPS cell research fund, Center for iPS cell research and application, Kyoto university"},"grantIds":null},{"title":{"ja":"iPS細胞を用いたCOVID-19重症化リスクSNPの作用機序解明","en":"iPSC-based functional dissection of COVID-19 severity-associated SNPs"},"agency":{"ja":"公益財団法人 上原記念生命科学財団","en":"The Uehara Memorial Foundation"},"grantIds":null},{"title":{"ja":"iPS細胞を用いたCOVID-19重症化リスクSNPの作用機序解明","en":"iPSC-based functional dissection of COVID-19 severity-associated SNPs"},"agency":{"ja":"公益財団法人 日立財団 倉田奨励金","en":"The Kurata Grants by The Hitachi Global Foundation"},"grantIds":null},{"title":{"ja":"iPS細胞を用いたCOVID-19重症化リスクSNPの作用機序解明","en":"iPSC-based functional dissection of COVID-19 severity-associated SNPs"},"agency":{"ja":"iPSアカデミアジャパン研究助成","en":"iPS Academia Japan"},"grantIds":null},{"title":{"ja":"指定難病を中心とした希少疾患iPS細胞バンクの拡充に関する研究","en":"Research on the expansion of an iPS cell bank for rare diseases, focusing on designated intractable diseases"},"agency":{"ja":"日本医療研究開発機構（AMED） 再生・細胞医療・遺伝子治療実現加速化プログラム、再生医療実現拠点ネットワークプログラム","en":"Acceleration Program of R&D and Implementation for Regenerative Medicine and Cell and Gene Therapy & Research Center Network for Realization of Regenerative Medicine, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22bm0804033"]},{"title":{"ja":"iPS細胞を用いた疾患研究推進のための共同研究支援事業","en":"Joint Research Support Program for Promoting Disease Research using iPS Cells"},"agency":{"ja":"日本医療研究開発機構（AMED） 再生・細胞医療・遺伝子治療実現加速化プログラム","en":"Acceleration Program of R&D and Implementation for Regenerative Medicine and Cell and Gene Therapy, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP23bm1423018"]},{"title":{"ja":"次世代医療を目指した再生・細胞医療・遺伝子治療研究開発拠点","en":"Core Research Center for Next-generation Medicine Utilizing Cell and Gene Therapy"},"agency":{"ja":"日本医療研究開発機構（AMED） 再生・細胞医療・遺伝子治療実現加速化プログラム","en":"Acceleration Program of R&D and Implementation for Regenerative Medicine and Cell and Gene Therapy, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP23bm1323001"]}],"relatedPublications":[{"title":"iPSC-based functional genomics reveals functionally opposing variants within a disease-associated haplotype","datasets":["JGAD000989"]}],"datasets":["JGAD000393","JGAD000989"],"controlledAccessUsers":[]}