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

<p dir="ltr">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 a...

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Bibliographic Details
Main Author: Gowher Ali (14152593) (author)
Other Authors: Kyung Chul Shin (13913556) (author), Wesal Habbab (17346961) (author), Ghaneya Alkhadairi (17346964) (author), Alice AbdelAleem (17753799) (author), Fouad A. AlShaban (17753802) (author), Yongsoo Park (761850) (author), Lawrence W. Stanton (6707191) (author)
Published: 2024
Subjects:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
Neurosciences
cortical neuron
NAPB
iPSC
CRISPR/Cas9
exon skipping
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