Transcriptome data of WS patients and controls
Fibroblasts of 4 WS patients and 4 sex matched controls were transformed into iPSCs, which were then differentiated to Neuroepithelial Stem Cells (NESCs), and further differentiated into neurons. RNA sequencing was performed at the NESC stage and after 4 and 8 weeks of neural development for 3 replicates per individual using the Illumina TruSeq stranded library polyA method on the NovaSeq6000 platform at NGI Stockholm. The data was preprocessed using the nf-core/rnaseq (https://nf-co.re/rnaseq) that includes quality control, data cleaning, and read alignment to GRCh38 (STAR, v2.6.1d)
- 17/11/2025
- 70 samples
- DAC: EGAC50000000175
- Technology: Illumina NovaSeq 6000
DUO:0000018 version: 2021-02-23
not for profit, non commercial use only
This data use modifier indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use.
DUO:0000021 version: 2021-02-23
ethics approval required
This data use modifier indicates that the requestor must provide documentation of local IRB/ERB approval.
DUO:0000042 version: 2021-02-23
general research use
This data use permission indicates that use is allowed for general research use for any research purpose.
Data sharing policy for the rare diseases group at Karolinska Institutet
Data will be available upon request to the DAC if corresponding to the Ethics agreements
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS50000001214 | RNASeq |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Quality Report |
Located in
i
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|---|---|---|---|---|
| EGAF50000420750 | bam | 4.4 GB |
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| EGAF50000420751 | bam | 3.6 GB |
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| EGAF50000420752 | bam | 4.4 GB |
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| EGAF50000420753 | bam | 4.5 GB |
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| EGAF50000420754 | bam | 3.6 GB |
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| EGAF50000420755 | bam | 4.6 GB |
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| EGAF50000420756 | bam | 4.0 GB |
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| EGAF50000420757 | bam | 4.2 GB |
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| EGAF50000420758 | bam | 4.9 GB |
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| EGAF50000420759 | bam | 4.2 GB |
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| EGAF50000420760 | bam | 4.0 GB |
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| EGAF50000420761 | bam | 3.9 GB |
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| EGAF50000420762 | bam | 4.3 GB |
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| EGAF50000420763 | bam | 4.2 GB |
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| EGAF50000420764 | bam | 4.0 GB |
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| EGAF50000420765 | bam | 3.8 GB |
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| EGAF50000420766 | bam | 4.0 GB |
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| EGAF50000420767 | bam | 3.2 GB |
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| EGAF50000420768 | bam | 4.1 GB |
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| EGAF50000420769 | bam | 4.5 GB |
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| EGAF50000420770 | bam | 3.9 GB |
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| EGAF50000420771 | bam | 4.0 GB |
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| EGAF50000420772 | bam | 4.2 GB |
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| EGAF50000420773 | bam | 4.2 GB |
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| EGAF50000420774 | bam | 4.4 GB |
|
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| EGAF50000420775 | bam | 5.0 GB |
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| EGAF50000420776 | bam | 4.1 GB |
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| EGAF50000420777 | bam | 4.3 GB |
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| EGAF50000420778 | bam | 4.3 GB |
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| EGAF50000420779 | bam | 4.4 GB |
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| EGAF50000420780 | bam | 4.6 GB |
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| EGAF50000420781 | bam | 4.3 GB |
|
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| EGAF50000420782 | bam | 4.2 GB |
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| EGAF50000420783 | bam | 4.4 GB |
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| EGAF50000420784 | bam | 4.4 GB |
|
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| EGAF50000420785 | bam | 3.8 GB |
|
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| EGAF50000420786 | bam | 4.7 GB |
|
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| EGAF50000420787 | bam | 4.3 GB |
|
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| EGAF50000420788 | bam | 4.6 GB |
|
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| EGAF50000420789 | bam | 3.5 GB |
|
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| EGAF50000420790 | bam | 3.7 GB |
|
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| EGAF50000420791 | bam | 4.0 GB |
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| EGAF50000420792 | bam | 4.2 GB |
|
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| EGAF50000420793 | bam | 4.6 GB |
|
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| EGAF50000420794 | bam | 3.5 GB |
|
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| EGAF50000420795 | bam | 3.7 GB |
|
|
| EGAF50000420796 | bam | 4.0 GB |
|
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| EGAF50000420797 | bam | 3.6 GB |
|
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| EGAF50000420798 | bam | 3.7 GB |
|
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| EGAF50000420799 | bam | 3.5 GB |
|
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| EGAF50000420800 | bam | 3.7 GB |
|
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| EGAF50000420801 | bam | 4.3 GB |
|
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| EGAF50000420802 | bam | 4.5 GB |
|
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| EGAF50000420803 | bam | 4.9 GB |
|
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| EGAF50000420804 | bam | 3.4 GB |
|
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| EGAF50000420805 | bam | 4.0 GB |
|
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| EGAF50000420806 | bam | 5.3 GB |
|
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| EGAF50000420807 | bam | 3.8 GB |
|
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| EGAF50000420808 | bam | 3.8 GB |
|
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| EGAF50000420809 | bam | 4.6 GB |
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| EGAF50000420810 | bam | 3.5 GB |
|
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| EGAF50000420811 | bam | 5.1 GB |
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| EGAF50000420812 | bam | 4.1 GB |
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| EGAF50000420813 | bam | 4.1 GB |
|
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| EGAF50000420814 | bam | 3.4 GB |
|
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| EGAF50000420815 | bam | 4.3 GB |
|
|
| EGAF50000420816 | bam | 4.0 GB |
|
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| EGAF50000420817 | bam | 3.7 GB |
|
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| EGAF50000420818 | bam | 3.4 GB |
|
|
| EGAF50000420819 | bam | 4.2 GB |
|
|
| 70 Files (288.4 GB) | ||||