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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

JGAD001129

Type of data
NGS (Targeted DNA-seq, Targeted RNA-seq)
Access criteria
Controlled-access (Type I)
Research
hum0612
DDBJ Search
JGAD001129 (opens in a new tab)

Analysis method

vLAS (very long amplicon sequencing)

Materials and participants
xeroderma pigmentosum: 1case
peripheral blood DNA: 1 sample
  • Health status
    Affected
  • Subject count
    1 (Individual)
Disease
  • xeroderma pigmentosum
Sample description
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.
  • Tissue
    Peripheral blood
Sample provider
N/A
Experimental method
Targeted DNA sequencing
Target
ERCC4 gene
Reagent kit
Illumina DNA Prep
Fragmentation
included in the above library construction kit
Platform
Illumina MiSeq
Read type
Paired-end
Read length
250 bp
Data use policy
NBDC data sharing policy (JGAP000001)

rLAS (RNA long amplicon sequencing)

Materials and participants
xeroderma pigmentosum: 1case
Peripheral mononuclear cells isolated from whole blood: 1 sample
  • Health status
    Affected
  • Subject count
    1 (Individual)
Disease
  • xeroderma pigmentosum
Sample description
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.
  • Tissue
    PBMC
Sample provider
N/A
Experimental method
Targeted RNA sequencing
Target
ERCC4 gene
Reagent kit
Illumina DNA Prep
Fragmentation
included in the above library construction kit
Platform
Illumina MiSeq
Read type
Paired-end
Read length
250 bp
Data use policy
NBDC data sharing policy (JGAP000001)