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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)
We apologize for any inconvenience this may cause and appreciate your understanding.

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.

Research ID

hum0107-v1Release info

This page is a past version (v1). The latest version is v2.
Latest version (v2)

Research title

Establish induced pluripotent stem (iPS) cells from patients with Gorlin syndrome and elucidate the pathology

Research overview

Aims
Identification of cause mutations and analysis of novel mutated genes of Gorlin syndrome
Methods
Exome sequence analysis, RNA sequence analysis
Participants/materials
Patients with Gorlin syndrome : 4 cases
URL
N/A

Datasets

The list is the one this version published; each dataset's content is shown as it is now.

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000099NGS (Exome)
  • WES
Controlled-access (Type I)2020-09-28

Data provider

Principal investigator
Toshifumi Azuma
Affiliation
Tokyo Dental Collage department of biochemistry

Research projects

NameURL
Tokyo Dental College Research Branding Project
N/A

Grants

NameTitleProject number
KAKENHI Grant-in-Aid for Young Scientists (B)
Elucidation of the pathological mechanism of Gorlin syndrome using disease-specific iPS cells
  • 16K20427
KAKENHI Grant-in-Aid for Young Scientists (B)
Elucidation of the pathophysiology of Cleidocranial dysplasia using disease-specific iPS cells
  • 16K20428
Tokyo Dental College Research Branding Project
N/A
N/A

Related publications

TitleDOIDataset ID
Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype
https://doi.org/10.1371/journal.pone.0184702 (opens in a new tab)
Hedgehog activation regulates human osteoblastogenesis.
https://doi.org/10.1016/j.stemcr.2020.05.008 (opens in a new tab)

Controlled access users

Principal investigatorAffiliationCountry/RegionResearch titlePeriod of data useDataset ID
Michiaki HamadaHamada Laboratory, Faculty of Science and Engineering, Waseda UniversityJapanConstruction of RNA-targeted Drug Discovery Database2023-01-05 – 2027-10-31