Work

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

Year: 2023

Type: dataset

Abstract: 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

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.10369576

Authors: Ali, Gowher, Shin, Kyung Chul, Habbab, Wesal, Alkhadairi, Ghaneya, AbdelAleem, Alice, Alshaban, Fouad, Park, Yongsoo, Stanton, Lawrence

Institutions: National Research Centre, Hamad bin Khalifa University, Qatar Foundation

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Qatar Foundation

OpenAlex ID: W4394032887

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