Royal College of Surgeons in Ireland
Browse

Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A, NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi064-A, NUIGi064-B, NUIGi064-C)

Download (7.17 MB)
journal contribution
posted on 2023-05-03, 16:48 authored by Rachel Stewart, Cloe Gadoud, Janusz Krawczyk, Veronica McInerney, Timothy O'Brien, Sanbing Shen, Nicholas M Allen

KCNQ2 encodes the potassium-gated voltage channel Kv7.2, responsible for the M-current, which contributes to neuronal resting membrane potential. Pathogenic variants in KCNQ2 cause early onset epilepsies, developmental and epileptic encephalopathies. In this study, we generated three iPSC lines from dermal fibroblasts of a 5 year-old female patient with the KCNQ2 c.638C > T (p.Arg213Gln) pathogenic heterozygous variant and three iPSC lines from a healthy sibling control. These iPSC lines were validated by confirming the targeted mutation, SNP karyotyping, STR analysis, pluripotent gene expression, differentiation capacity into three germ layers, and were free of transgene integration and Mycoplasma. 

Funding

IRC Enterprise partnership scheme EPSPD/2019/51

SFI (Grant no. 16/RC/3948)

HRB Clinical Research Facility

the Confucius Institute (CI) of Chinese and Regenerative Medicine at University of Galway

Children’s Fund for Health, Temple St, Dublin

NUI Galway and the Irish Government’s Programme for Research

History

Comments

The original article is available at https://www.sciencedirect.com/

Published Citation

Stewart R, et al. Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A, NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi064-A, NUIGi064-B, NUIGi064-C). Stem Cell Res. 2023; 69:103093.

Publication Date

11 April 2023

PubMed ID

37071954

Department/Unit

  • FutureNeuro Centre

Publisher

Elsevier B.V.

Version

  • Published Version (Version of Record)