Published December 12, 2023
| Version V1
Dataset
Open
Characterization of a loss-offunction NSF attachment protein beta mutation in monozygotic triplets affected with epilepsy and autism using cortical neurons from proband-derived and CRISPR-corrected induced pluripotent stem cell lines
Creators
-
1.
Qatar Biomedical Research Institute
- 2. Medical Molecular Genetics 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 the induced pluripoent stem cells (iPSC) of control parents (CtrlF and CtrlM) and corrected proband. There are three replicates (Rep1, Rep2, Rep3) for each sample with Forwad read (R1_001.fastq.gz)
CtrlF: Control Father sample
CtrlM: Control mother sample
NDD_01_Corr_Het: Heterozygous correction of NAPB mutation (c.354+2T>G) in NDD_01 proband
NDD_05_Corr_Hom: Homozygous correction of NAPB mutation (c.354+2T>G) in NDD_05 proband
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md5:09911ac7bbfbef8077bfd45f7864901d
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Additional details
Identifiers
Funding
- Qatar Foundation
Dates
- Accepted
-
2023-12-12
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. doi: 10.3389/fnins.2023.1302470