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 ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000625 | NGS (Exome) | Controlled-access (Type I) | 2023/07/18 |
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MOLECULAR DATA
| 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):
| Name | Title | Project 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
| Title | DOI | Dataset 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 Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
