NBDC Research ID: hum0221.v1

SUMMARY

Aims: Gene expression analysis

Methods: RNA-seq for a cellular RNA

Participants/Materials: Fabry disease

Dataset ID	Type of Data	Criteria	Release Date
JGAS000225	NGS (RNA-seq)	Controlled-access (Type I)	2023/07/28

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MOLECULAR DATA


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):

Name	Title	Project 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

	Title	DOI	Dataset ID
1
2

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