Characterization of a loss-of-function 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

Characterization of a loss-of-function 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

We investigated whether a homozygous recessive genetic variant of NSF attachment protein beta (NAPB) gene inherited by monozygotic triplets contributed to their phenotype of early-onset epilepsy and autism. Induced pluripotent stem cell (iPSC) lines were generated from all three probands and both pa...

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Bibliographic Details
Main Authors: Gowher Ali, Kyung Chul Shin, Wesal Habbab, Ghaneya Alkhadairi, Alice AbdelAleem, Fouad A. AlShaban, Yongsoo Park, Lawrence W. Stanton
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Neuroscience
Subjects:
cortical neuron
NAPB
iPSC
CRISPR/Cas9
exon skipping
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2023.1302470/full

Internet

https://www.frontiersin.org/articles/10.3389/fnins.2023.1302470/full

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