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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)
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 AllenKCNQ2 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
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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 2023External DOI
PubMed ID
37071954Department/Unit
- FutureNeuro Centre
Publisher
Elsevier B.V.Version
- Published Version (Version of Record)
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Keywords
stem cell linesKCNQ2KCNQ2 developmental and epileptic encephalopathyc.638C > Tp.Arg213GlnNUIGi063-ANUIGi063-BNUIGi063-CNUIGi064-ANUIGi064-BNUIGi064-Cneuronal resting membrane potentialPathogenic variantsMultiple Cell LinesRegenerative Medicine (incl. Stem Cells and Tissue Engineering)PaediatricsCentral Nervous SystemNeurology and Neuromuscular Diseases