NBDC Research ID: hum0221.v1



Aims: Gene expression analysis

Methods: RNA-seq for a cellular RNA

Participants/Materials: Fabry disease


Dataset IDType of DataCriteriaRelease Date
JGAS000225 NGS (RNA-seq) Controlled-access (Type I) 2023/07/28

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Participants/Materials 3 iPS cell lines established from 2 Fabry disease patients (ICD10: E752)
Targets RNA-seq
Target Loci for Capture Methods -
Platform Illumina [NovaSeq 6000]
Library Source RNAs extracted from iPS cells derived from patients' peripheral blood cells
Cell Lines -
Library Construction (kit name) TruSeq Stranded mRNA LT Sample Prep Kit
Fragmentation Methods According to TruSeq Stranded mRNA Sample Preparation Guide
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 101 bp
Mapping Methods STAR (version 2.7.1a)
Reference Genome Sequence GRCh38
Detecting Methods for Transcripts RSEM (version 1.2.31), annotation: Ensembl ver. 98
Total Reads / Uniquely Mapped Reads Total reads: 35447368.83 (mean) / Uniquely mapped reads: 33238808.83 (mean)
Japanese Genotype-phenotype Archive Dataset ID JGAD000316
Total Data Volume 14 GB (fastq, txt [Transcripts Per Million])
Comments (Policies) NBDC policy



Principal Investigator: Tomonari Awaya

Affiliation: Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
Program for Promoting Platform of Genomics based Drug Discovery, Japan Agency for Medical Research and Development (AMED) Development of genetic disease medicine by pharmacogenomics analysis ofspliceswitching compounds JP18kk0305003



TitleDOIDataset ID


USRES (Controlled-access Data)

Principal Investigator: Affiliation: Data in Use (Dataset ID)Period of Data Use