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Due to system maintenance, the application system, application review by the Data Access Committee will be unavailable during the following period.
Schedule: October 5th (Mon), 2026, 9:00 - October 7th (Wed), 2026, 15:00 (JST)
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We are currently receiving a large number of applications for data submission, and the review process is taking longer than usual.We sincerely apologize for the delay and kindly ask for your understanding. When submitting an application, we would greatly appreciate it if you could allow sufficient time for the processing.

Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Dataset ID

JGAD000788

Type of data
NGS (Exome)
NGS (Target Capture)
Access criteria
Controlled-access (Type I)
Total data volume
702 GB
File formats
  • FASTQ
  • BAM
Research
hum0434
Date published
2025-04-10
Date modified
2025-04-10
DDBJ Search
JGAD000788 (opens in a new tab)
JGA Study
JGAS000658 (opens in a new tab)

Unrestricted-access files linked to this dataset

Download the URL list
FileLabelSizeCopy URL
hum0434_TargetedGeneList.xlsxGene list12.3 KB

Analysis method

WES

Materials and participants
pure red cell aplasia (ICD10: D600): 10 cases
CD4-positive cells: 10 samples
CD8-positive cells: 10 samples
  • Health status
    Affected
  • Subject count
    10 (Individual)
Disease
pure red cell aplasia (D600)
Sample description
DNAs extracted from CD4-positive cells and CD8-positive cells of patients
  • Tissue
    CD4+ cell, CD8+ cell
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
WES
Target
N/A
Reagent kit
Ion AmpliSeq Exome RDY Kit
Fragmentation
N/A
Platform
Thermo Fisher Scientific Ion S5
Read type
Single-end
Read length
200 bp
Reference genome
GRCh37
Mapping
Torrent Suite software program
Mapping quality
MAPQ = 6.5
Coverage (depth)
CD4-positive cells: 84x
CD8-positive cells: 136x
Data use policy
NBDC data sharing policy (JGAP000001)

Targeted DNA sequencing

Materials and participants
pure red cell aplasia (ICD10: D600): 53 cases
PBMCs were collected at 2 different time points from the 4 patients with pure red cell aplasia (C1: onset and 9y later, C2: onset and 5y later, C3: onset and 6y later, C4: onset and 3y later)
aplastic anemia (ICD10: D61.3): 10 cases
2 healthy controls
PBMCs: 69 samples
Buccal swab, CD4-positive cells and neutrophils from 1 pure red cell aplasia case included above cases: total 3 samples
  • Health status
    Mixed
  • Subject count
    65 (Individual)
Disease
pure red cell aplasia (D600)
aplastic anemia (D613)
Sample description
DNAs extracted from PBMCs, buccal swab, CD4-positive cells and neutrophils
  • Tissue
    Buccal mucosa, CD14+ cell, Neutrophil, PBMC, Peripheral blood
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
Targeted DNA sequencing
Target
52 genes (Gene list)
Reagent kit
Ion AmpliSeq Library Kit Plus
Fragmentation
N/A
Platform
Thermo Fisher Scientific Ion GeneStudio S5
Read type
Single-end
Read length
200 bp
Data use policy
NBDC data sharing policy (JGAP000001)