NBDC Research ID: hum0411.v1

 

SUMMARY

Aims: Elucidation of the molecular mechanism of fructose-1,6-bisphosphatase (FBPase) deficiency

Methods: Whole exome analysis using DNAs extracted from the peripheral blood cells

Participants/Materials: FBPase deficiency patient and its family member (father, mother, sister)

 

Dataset IDType of DataCriteriaRelease Date
JGAS000625 NGS (Exome) Controlled-access (Type I) 2023/07/18

*Release Note

*Data users need to apply an application for Using NBDC Human Data to reach the Controlled-access Data. Learn more

 

MOLECULAR DATA

JGAS000625

Participants/Materials

FBPase deficiency (ICD10: E74.1): 1 case

    3 family members (father, mother, sister)

Targets Exome
Target Loci for Capture Methods -
Platform Illumina [HiSeq 2500]
Library Source DNAs extracted from peripheral blood cells
Cell Lines -
Library Construction (kit name) SureSelect Human All Exon V6
Fragmentation Methods Ultrasonic fragmentation (Covaris)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 126 bp
Mapping Methods bwa
Mapping Quality mapping quality > 20
Reference Genome Sequence hg19 (GRCh37)
Coverage (Depth) 139
Japanese Genotype-phenotype Archive Dataset ID JGAD000754
Total Data Volume 37.4 GB (bam)
Comments (Policies) Familial policy

 

DATA PROVIDER

Principal Investigator: Tomoaki Tanaka

Affiliation: Department of Molecular Diagnosis, Graduate School of Medicine, Chiba University

Project / Group Name: Molecular Pathophysiology of FBPase Deficiency / Tomoaki Tanaka Laboratory

Funds / Grants (Research Project Number):

NameTitleProject Number
KAKENHI Grant-in-Aid for Scientific Research (B) Elucidation of molecular pathogenesis of obesity and diabetes via mitochondrial complex and its regulatory mechanism analyses 19H03708
KAKENHI Grant-in-Aid for Challenging Research (Pioneering) Elucidation of the mechanism of liver glucose metabolism-immune linkage by single cell analysis and spatial transcriptomics 23K17429

 

PUBLICATIONS

TitleDOIDataset ID
1 Identification of genotype–biochemical phenotype correlations associated with fructose1,6-bisphosphatase deficiency doi: 10.1038/s42003-023-05160-y JGAD000754

 

USRES (Controlled-access Data)

Principal InvestigatorAffiliationCountry/RegionResearch TitleData in Use (Dataset ID)Period of Data Use