NBDC Research ID: hum0107.v2

SUMMARY

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

Data Set ID	Type of Data	Criteria	Release Date
JGAS000099	NGS (Exome)	Controlled Access (Type I)	2017/10/02
JGAS000218	NGS (RNA-seq)	Controlled Access (Type I)	2020/06/01

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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 Data set ID	JGAD000099
Total Data Volume	2 GB (fastq [10 files])
Comments (Policies)	NBDC policy


Participants/Materials	Gorlin syndrome (ICD10: Q859) : 1 case osteoblast differentiated from iPS cells established from oral mucosa fibroblast : 3 samples 　osteoblast differentiated from iPS cells established from oral fibroblast cell line : 3 samples
Targets	RNA-seq
Target Loci for Capture Methods	-
Platform	Illumina [HiSeq 2500]
Library Source	RNAs extracted from osteoblast differentiated from iPS cells established from oral mucosa fibroblast or fibroblast cell line
Cell Lines	-
Library Construction (kit name)	HiSeq SBS Kit v4
Fragmentation Methods	-
Spot Type	Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers)	125 bp
Japanese Genotype-phenotype Archive Data set ID	JGAD000304
Total Data Volume	13 GB Data files: 12 (fastq) Analysis files: 6 (bam [ref：GRCh38])
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
Tokyo Dental College Research Branding Project

	Title	DOI	Data Set ID
1	Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype	doi: 10.1371/journal.pone.0184702	JGAD000099
2	Hedgehog activation regulates human osteoblastogenesis.	doi: 10.1016/j.stemcr.2020.05.008	JGAD000304

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