{"id":"JGAD001129","research":"hum0612","url":"https://humandbs.dbcls.jp/dataset/JGAD001129","datePublished":"2026-10-30","dateModified":"2026-10-30","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（Targeted DNA-seq、Targeted RNA-seq）","en":"NGS (Targeted DNA-seq, Targeted RNA-seq)"}}],"experiments":[{"label":{"ja":"vLAS (very long amplicon sequencing)","en":"vLAS (very long amplicon sequencing)"},"values":[{"key":"materials-and-participants","label":{"ja":"試料 / 対象者","en":"Materials and participants"},"type":"text","text":{"ja":"色素性乾皮症：1症例\n末梢血DNA：1検体","en":"xeroderma pigmentosum: 1case\nperipheral blood DNA: 1 sample"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"Q821","label":{"ja":"色素性乾皮症","en":"Xeroderma pigmentosum"}}],"name":{"ja":"色素性乾皮症","en":"xeroderma pigmentosum"}}]},{"key":"health-status","label":{"ja":"健康状態","en":"Health status"},"type":"vocabulary","terms":[{"code":"affected","label":{"ja":"罹患","en":"Affected"}}]},{"key":"subject-count","label":{"ja":"対象者数","en":"Subject count"},"type":"number","numbers":[{"value":1,"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":"individual","label":{"ja":"人数","en":"Individual"}}]},{"key":"sample-description","label":{"ja":"試料説明","en":"Sample description"},"type":"text","text":{"ja":"ERCC4遺伝子の深部イントロンに新規のスプライシング変異　NC_000016.10(NM_005236.3):c.207+196T>A　が同定されタイプFと診断された検体の末梢血DNAを約20kbのLong-PCR setで増幅し、対象遺伝子のイントロンを含む全ゲノム領域をカバー、アンプリコンをプールした。","en":"Genetic testing was performed and a novel splicing variant, NC_000016.10(NM_005236.3):c.207+196T>A, was identified in a deep intron of the ERCC4 gene. We amplified peripheral blood DNA using a long PCR set of approximately 20 kb, which covered the entire genomic region, including the introns of the target gene."}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"peripheral-blood","label":{"ja":"末梢血","en":"Peripheral blood"}}]},{"key":"sample-provider","label":{"ja":"購入試料の入手元","en":"Sample provider"},"type":"text","text":{"ja":null,"en":null}},{"key":"experimental-method","label":{"ja":"実験方法","en":"Experimental method"},"type":"vocabulary","terms":[{"code":"targeted-dna-sequencing","label":{"en":"Targeted DNA sequencing"}}]},{"key":"targets","label":{"ja":"対象領域","en":"Target"},"type":"text","text":{"ja":"ERCC4遺伝子","en":"ERCC4 gene"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"illumina-dna-prep","label":{"ja":"Illumina DNA Prep","en":"Illumina DNA Prep"}}]},{"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-miseq","label":{"en":"Illumina MiSeq"}}]},{"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":250,"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)"}}]}]},{"label":{"ja":"rLAS (RNA long amplicon sequencing)","en":"rLAS (RNA long amplicon sequencing)"},"values":[{"key":"materials-and-participants","label":{"ja":"試料 / 対象者","en":"Materials and participants"},"type":"text","text":{"ja":"色素性乾皮症：1症例\n全血より分離した末梢単核球：1検体","en":"xeroderma pigmentosum: 1case\nPeripheral mononuclear cells isolated from whole blood: 1 sample"}},{"key":"disease","label":{"ja":"疾患","en":"Disease"},"type":"disease","diseases":[{"terms":[{"code":"Q821","label":{"ja":"色素性乾皮症","en":"Xeroderma pigmentosum"}}],"name":{"ja":"色素性乾皮症","en":"xeroderma pigmentosum"}}]},{"key":"health-status","label":{"ja":"健康状態","en":"Health status"},"type":"vocabulary","terms":[{"code":"affected","label":{"ja":"罹患","en":"Affected"}}]},{"key":"subject-count","label":{"ja":"対象者数","en":"Subject count"},"type":"number","numbers":[{"value":1,"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":"individual","label":{"ja":"人数","en":"Individual"}}]},{"key":"sample-description","label":{"ja":"試料説明","en":"Sample description"},"type":"text","text":{"ja":"全血より末梢単核球を分離。Trizol で全RNAを抽出しoligo dTプライマーで1本鎖cDNAを作成。これを鋳型にERCC4遺伝子の全長ｍRNAをLong RT-PCRで増幅した。","en":"Peripheral mononuclear cells were isolated from whole blood. Total RNA was extracted using Trizol and single-stranded cDNA was synthesized using oligo-dT primers. The full-length mRNA of the ERCC4 gene was then amplified by Long RT-PCR using this as a template."}},{"key":"tissue","label":{"ja":"組織","en":"Tissue"},"type":"vocabulary","terms":[{"code":"pbmc","label":{"ja":"末梢血単核球 (PBMC)","en":"PBMC"}}]},{"key":"sample-provider","label":{"ja":"購入試料の入手元","en":"Sample provider"},"type":"text","text":{"ja":null,"en":null}},{"key":"experimental-method","label":{"ja":"実験方法","en":"Experimental method"},"type":"vocabulary","terms":[{"code":"targeted-rna-sequencing","label":{"ja":"Targeted RNA sequencing","en":"Targeted RNA sequencing"}}]},{"key":"targets","label":{"ja":"対象領域","en":"Target"},"type":"text","text":{"ja":"ERCC4遺伝子","en":"ERCC4 gene"}},{"key":"reagents","label":{"ja":"試薬キット","en":"Reagent kit"},"type":"vocabulary","terms":[{"code":"illumina-dna-prep","label":{"ja":"Illumina DNA Prep","en":"Illumina DNA Prep"}}]},{"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-miseq","label":{"en":"Illumina MiSeq"}}]},{"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":250,"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":225219850,"fileFormats":[{"code":"fastq","label":{"en":"FASTQ"}}]}