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Dataset ID

JGAD000793

Type of data
NGS (scRNA-seq, CUT&RUN-seq)
Access criteria
Controlled-access (Type I)
Total data volume
474 GB
File formats
  • FASTQ
Research
hum0249
Date published
2025-04-14
Date modified
2025-04-14

Analysis method

scRNA-seq

Materials and participants
hard tissue/connective tissue related diseases (ICD10: Q870): 2 cases
iPSCs derived from oral mucosa of a fibroblast patient with Cleidocranial Dysostosis (CCD) (mutation-corrected iPS cells by gene editing) : 1 case (1 sample)
osteoblast differentiated from iPSCs derived from oral mucosa of a fibroblast patient with Cleidocranial Dysostosis (CCD) (mutation-corrected iPS cells by gene editing): 1 case (1 sample)
iPSCs derived from oral mucosa of a fibroblast patient with Cleidocranial Dysostosis (CCD) (RUNX2 knocked out iPS cells by gene editing): 1 case (1 sample)
osteoblast differentiated from iPSCs derived from oral mucosa of a fibroblast patient with Cleidocranial Dysostosis (CCD) (RUNX2 knocked out iPS cells by gene editing): 1 case (1 sample)
osteoblast differentiated from iPSCs derived from oral mucosa of a fibroblast patient with Cleidocranial Dysostosis (CCD) (RUNX2 knocked out iPS cells by gene editing) with forced expression of SYNE1: 1 case (1 sample)
  • Health status
    Affected
  • Subject count
    2 (Individual)
Disease
hard tissue/connective tissue related diseases (Q870)
Sample description
RNA extracted from iPS cells and osteoblast differentiated from iPS cells
  • Tissue
    Buccal mucosa
  • Tumor / normal
    Normal
Cell line
iPSC
Sample provider
N/A
Experimental method
scRNA-seq
Target
N/A
Reagent kit
Chromium Next GEM Single Cell 5' v2
Fragmentation
Enzymatic fragmentation
Platform
Illumina NovaSeq 6000
Read type
Paired-end
Read length
150 bp

CUT&RUN-seq

Materials and participants
hard tissue/connective tissue related diseases (ICD10: Q870): 2 cases
osteoblast differentiated from iPS cells established from oral mucosa fibroblast: 2 cases (2 samples)
osteoblast differentiated from ips cells established from oral mucosa fibroblast (mutation-corrected ips cells by gene editing): 1 case (1 sample)
  • Health status
    Affected
  • Subject count
    2 (Individual)
Disease
hard tissue/connective tissue related diseases (Q870)
Sample description
DNA extracted from osteoblast differentiated from iPS cells
  • Tissue
    Buccal mucosa
  • Tumor / normal
    Normal
Sample provider
N/A
Experimental method
CUT&RUN-seq
Target
N/A
Reagent kit
CUT&RUN Library Prep Kit
Fragmentation
Enzymatic fragmentation
Platform
Illumina NovaSeq 6000
Read type
Paired-end
Read length
150 bp