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Dataset ID

E-GEAD-623

Type of data
NGS (RNA-seq)
Access criteria
Unrestricted-access
Total data volume
738 KB
File formats
  • TXT
  • CSV
Research
hum0406
Date published
2023-08-30
Date modified
2023-08-30

Analysis method

RNA-seq

Materials and participants
Familial interstitial pneumonia with SFTPC variant (ICD10: J84.9): 1 case
- EpCAM+CPM+ or EpCAM-CPM- cells of alveolar organoids derived from iPSCs established from PBMCs of the patient with Y104H variant of SFTPC: 3 samples each
- EpCAM+CPM+ or EpCAM-CPM- cells of Y104H-KO iPSC-derived alveolar organoids established from PBMCs of the patient with Y104H variant of SFTPC: 3 samples each
  • Health status
    Affected
  • Subject count
    1 (Individual)
Disease
Familial interstitial pneumonia with SFTPC variant (J849)
Sample description
RNAs extracted from EpCAM+CPM+ or EpCAM-CPM- cells derived from iPSCs established from PBMCs of a patient with Y104H variant of SFTPC
Sample provider
N/A
Experimental method
RNA-seq
Target
N/A
Reagent kit
Illumina Stranded Total RNA Prep, Ligation with Ribo-Zero Plus
Fragmentation
Exposure to divalent cations at elevated temperatures
Platform
Illumina NextSeq 2000
Read type
Paired-end
Read length
59 bp
Reference genome
GRCh38
Mapping
STAR 2.7.10b
QC and filtering
RSeQC package
Analysis method
HTSeq package
Gene count
36,602 genes
Processed data type
Gene expression matrix