NBDC Research ID: hum0486.v1

 

SUMMARY

Aims: Biliary atresia (BA) is a poor prognosis disease that causes fibrotic obstruction of the extrahepatic bile ducts by early infancy and progresses from bile stagnation to cirrhosis, the cause of which is still unknown. The aim of this study is to establish a bile duct cell induction system from normal human iPS cells and to prove the abnormality during the fetal period. Using this system, we will elucidate the molecular mechanisms of bile duct formation after mid-development, establish stable long-term culture techniques for bile duct stem cells, construct bile duct tree structures through in vitro and in vivo experiments, and establish an experimental system to investigate the bile duct injury process using biliary atresia-specific iPS cells.

Methods: whole genome sequencing (WGS)

Participants/Materials: iPS cell samples generated from five patients with biliary atresia (type I cyst)

URL: https://acd.brc.riken.jp/en/

 

Dataset IDType of DataCriteriaRelease Date
JGAS000765 NGS (WGS) Controlled-access (Type I) 2024/11/29

*Release Note

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

 

MOLECULAR DATA

JGAS000765

Participants/Materials

biliary atresia (type I cyst) (ICD10: Q44.2): 5 cases

          iPS cells generated from PBMCs: 5 samples

Targets WGS
Target Loci for Capture Methods -
Platform Illumina [NovaSeq X Plus 25B]
Library Source DNAs extracted from iPS cells
Cell Lines -
Library Construction (kit name) Illumina DNA PCR-Free Prep
Fragmentation Methods Ultrasonic fragmentation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 150 bp
Mapping Methods CLC Genomics Workbench version 20
Mapping Quality Q30 > 80%
Reference Genome Sequence GRCh37 - hg19
Coverage (Depth) > 30
Japanese Genotype-phenotype Archive Dataset ID JGAD000906
Total Data Volume 314.2 GB (fastq, csv)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Yohei Hayashi

Affiliation: RIKEN BioResource Research Center

Project / Group Name: iPS Cell Advanced Characterization and Development Team

URL: https://acd.brc.riken.jp/en/

Funds / Grants (Research Project Number):

NameTitleProject Number
- - -

 

PUBLICATIONS

TitleDOIDataset ID
1 Generation of human induced pluripotent stem cell lines derived from patients of cystic biliary atresia doi: 10.1007/s13577-024-01147-x JGAD000906
2

 

USRES (Controlled-access Data)

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