NBDC Research ID: hum0107.v1

SUMMARY

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

Dataset ID	Type of Data	Criteria	Release Date
JGAS000099	NGS (Exome)	Controlled-access (Type I)	2017/10/02

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MOLECULAR DATA


Participants/Materials	Gorlin syndrome (ICD10: Q859) : 4 cases oral mucosa fibroblast : 4 samples oral mucosa : 1 sample
Targets	Exome
Target Loci for Capture Methods	-
Platform	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 Dataset ID	JGAD000099
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):

Name	Title	Project 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

	Title	DOI	Dataset ID
1	Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype	doi: 10.1371/journal.pone.0184702	JGAD000099
2

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