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Generation of induced pluripotent stem cell lines from nonaffected parents and monozygotic triplets affected with autism spectrum disorder and epilepsy

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submitted on 2023-11-13, 07:35 and posted on 2023-11-26, 04:51 authored by Gowher Ali, Wesal Habbab, Ghaneya Alkhadairi, Fouad A. Al-Shaban, Lawrence W. Stanton

We have generated induced pluripotent stem cell (iPSC) lines from monozygotic triplets with a rare homozygous mutation in NAPB gene (c.354+2T>G). iPSC lines were also generated from their consanguineous parents who were both heterozygous for the inherited NAPB mutation. The iPSC lines were generated using non-integrating Sendai viral vectors. All iPSC lines showed prototypical stem cell morphology, expressed pluripotency markers and were able to differentiate to all three germ lineages. These iPSC lines will be useful to explore the molecular function of NAPB in neurophysiology and how its dysfunction potentially contributes to the progression of neurodevelopmental disorders associated with autism and epilepsy.

Other Information

Published in: Stem Cell Research
License: http://creativecommons.org/licenses/by/4.0/
See article on publisher's website: https://dx.doi.org/10.1016/j.scr.2022.102943

Funding

Open Access funding provided by the Qatar National Library.

History

Language

  • English

Publisher

Elsevier

Publication Year

  • 2022

License statement

This Item is licensed under the Creative Commons Attribution 4.0 International License.

Institution affiliated with

  • Hamad Bin Khalifa University
  • Qatar Biomedical Research Institute - HBKU
  • Neurological Disorders Research Center - QBRI
  • College of Health and Life Sciences - HBKU

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