{"id":"JGAD000781","research":"hum0431","url":"https://humandbs.dbcls.jp/dataset/JGAD000781","datePublished":"2024-01-25","dateModified":"2024-01-25","values":[{"key":"access-criteria","label":{"ja":"アクセス制限","en":"Access criteria"},"type":"vocabulary","terms":[{"code":"controlled-access-type-1","label":{"ja":"制限公開（Type I）","en":"Controlled-access (Type I)"}}]},{"key":"type-of-data","label":{"ja":"データの種類","en":"Type of data"},"type":"text","text":{"ja":"NGS（RNA-seq）","en":"NGS (RNA-seq)"}}],"experiments":[{"label":"RNA-seq","values":[{"key":"materials-and-participants","label":{"ja":"材料と対象者","en":"Materials and participants"},"type":"text","text":{"ja":"非罹患者由来iPS細胞（HPS4290:201B7-Ff）に自閉スペクトラム症（ICD10：F840）患者で同定された変異をCRISPR/Cas9システムにより導入した遺伝子改変ヒトiPS細胞株（PAM配列上にも人為的変異を導入）\n1）変異株：2検体（chr7:g.26200781C>T 変異とPAM配列上変異）\nコントロール株：2検体（PAM配列上変異のみ導入）\n2）変異株：3検体（chr22:g.19179942C>T変異とPAM配列上変異）\nコントロール株：2検体（PAM配列上変異のみ導入）","en":"Human iPSCs (HPS4290:201B7-Ff) introduced single variants identified in patients with ASD (ICD10: F840)\n1) Mutant iPSC lines with the chr7:g.26200781C>T variant and the single PAM sequence: 2 samples\nControl lines with a single PAM sequence: 2 samples\n2) Mutant iPSC lines with the chr22:g.19179942C>T variant and the single PAM sequence: 3 samples\nControl lines with a single PAM sequence: 2 samples"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"F840","label":{"ja":"自閉症","en":"Childhood autism"}}],"name":{"ja":"自閉スペクトラム症","en":"ASD"}}]},{"key":"health-status","label":{"ja":"健康状態","en":"Health status"},"type":"vocabulary","terms":[{"code":"mixed","label":{"ja":"混在","en":"Mixed"}}]},{"key":"subject-count","label":{"ja":"対象者数","en":"Subject count"},"type":"number","numbers":[{"value":9,"unit":null,"high":null}]},{"key":"subject-count-type","label":{"ja":"対象者数の数え方","en":"Counted as"},"type":"vocabulary","terms":[{"code":"sample","label":{"ja":"検体数","en":"Sample"}}]},{"key":"sample-description","label":{"ja":"試料説明","en":"Sample description"},"type":"text","text":{"ja":"遺伝子改変ヒトiPS細胞株から抽出したmRNA","en":"RNAs extracted from mutant iPSCs"}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"ipsc","label":{"ja":"iPS 細胞","en":"iPSC"}}]},{"key":"is-tumor","label":{"ja":"腫瘍 / 非腫瘍","en":"Tumor / normal"},"type":"vocabulary","terms":[{"code":"normal","label":{"ja":"非腫瘍","en":"Normal"}}]},{"key":"cell-line","label":{"ja":"細胞株","en":"Cell line"},"type":"vocabulary","terms":[{"code":"201b7-ff","label":{"en":"201B7-Ff"}},{"code":"ipsc","label":{"en":"iPSC"}}]},{"key":"sample-provider","label":{"ja":"試料の入手元","en":"Sample provider"},"type":"text","text":{"ja":"RIKEN BRC","en":"RIKEN BRC"}},{"key":"experimental-method","label":{"ja":"実験方法","en":"Experimental method"},"type":"vocabulary","terms":[{"code":"rna-seq","label":{"en":"RNA-seq"}}]},{"key":"targets","label":{"ja":"測定対象","en":"Target"},"type":"text","text":{"ja":null,"en":null}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"nebnext-ultra-rna-library-prep-kit-for-illumina","label":{"en":"NEBNext Ultra RNA Library Prep Kit for Illumina"}}]},{"key":"fragmentation","label":{"ja":"断片化","en":"Fragmentation"},"type":"text","text":{"ja":"上記キットに準拠","en":"included in the above library construction kit"}},{"key":"platform","label":{"ja":"プラットフォーム","en":"Platform"},"type":"vocabulary","terms":[{"code":"illumina-novaseq-6000","label":{"en":"Illumina NovaSeq 6000"}}]},{"key":"read-type","label":{"ja":"リードタイプ","en":"Read type"},"type":"vocabulary","terms":[{"code":"paired-end","label":{"ja":"ペアエンド","en":"Paired-end"}}]},{"key":"read-length","label":{"ja":"リード長","en":"Read length"},"type":"number","numbers":[{"value":150,"unit":"bp","high":null}]},{"key":"policies","label":{"ja":"利用ポリシー","en":"Data use policy"},"type":"vocabulary","terms":[{"code":"nbdc-data-sharing-policy-jgap000001","label":{"ja":"NBDC データ共有ポリシー (JGAP000001)","en":"NBDC data sharing policy (JGAP000001)"}}]}]}],"dataVolume":90825778012,"fileFormats":[{"code":"fastq","label":{"en":"FASTQ"}}]}