NBDC Research ID: hum0107.v1



Aims: Identification of cause mutations and analysis of novel mutated genes of Gorlin syndrome

Methods: Exome sequence analysis

Participants/Materials: Patients with Gorlin syndrome : 4 cases


Data Set IDType of DataCriteriaRelease Date
JGAS00000000099 NGS (Exome) Controlled Access (Type I) 2017/10/02

*Release Note  

* Data users need to apply the Form 2 (Application Form for Using NBDC Human Data) to reach the Controlled Access Data. Learn more





Gorlin syndrome (ICD10: Q859) : 4 cases

    oral mucosa fibroblast : 4 samples

    oral mucosa : 1 sample

Targets Exome
Target Loci for Capture Methods -

oral mucosa fibroblast: Illumina [HiSeq 2500]

oral mucosa: Illumina [HiSeq 4000]

Library Source DNAs extracted from oral mucosa fibroblasts and oral mucosa
Cell Lines -
Library Construction (kit name) Sure Select Human All Exon v5 kit
Fragmentation Methods Ultrasonic fragmentation (Covaris)
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 100 bp
Japanese Genotype-phenotype Archive Data set ID JGAD00000000099
Total Data Volume 2 GB (fastq [10 files])
Comments (Policies) NBDC policy



Principal Investigator: Toshifumi Azuma

Affiliation: Tokyo Dental Collage department of biochemistry

Project / Group Name: Tokyo Dental College Research Branding Project

URL: -

Funds / Grants (Research Project Number):

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



TitleDOIData Set ID
1 Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype doi: 10.1371/journal.pone.0184702 JGAD00000000099


USRES (Controlled-Access Data)

Principal Investigator: Affiliation: Data in Use (Data Set ID)Period of Data Use