Published December 12, 2023
| Version v1
Dataset
Open
Characterization of a loss-of-function NAPB mutation in monozygotic triplets affected with epilepsy and autism using cortical neurons from proband-derived and CRISPR-corrected iPSC lines. Author names and affiliations
Creators
-
1.
Qatar Biomedical Research Institute
- 2. Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt,
- 3. College of Health and Life Sciences (CHLS), Hamad Bin Khalifa University (HBKU), Qatar Foundation, Doha, Qatar
Description
RNA-seq data of matured cortical neurons (8-weeks old) derived from induced pluripoent stem cells (iPSC). There are three replicates (Rep1, Rep2, Rep3) for each sample with Forwad read (R1_001.fastq.gz) and reverse read (R2_001.fastq.gz).
CtrlF: Control Father sample
CtrlM: Control mother sample
NDD_01: Proband sample
NDD_04: Proband sample
NDD_05: Proband sample
Files
Files
(49.3 GB)
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1.7 GB | Download |
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md5:c6a0816e0fc586cae9fd7f28bb9bc1ac
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md5:de2f2ae4d89c114cd15e8523113538f6
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1.8 GB | Download |
Additional details
Additional titles
- Subtitle
- RNA-seq data
Related works
- Is described by
- Dataset: 10.3389/fnins.2023.1302470 (DOI)
Funding
- Qatar Foundation
References
- Ali G, Shin KC, Habbab W, Alkhadairi G, Abdelaleem A, Alshaban F, Park Y and Stanton L (2023) Characterization of a lossof- function NSF attachment protein beta mutation in monozygotic triplets affected with epilepsy and autism using cortical neurons from proband-derived and CRISPRcorrected induced pluripotent stem cell lines. Front. Neurosci. 17:1302470.