Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)

Alessia Arbini; James Gilmore; Mary D. King; Kathleen M. Gorman; Janusz Krawczyk; Veronica McInerney; Timothy O'Brien; Sanbing Shen; Nicholas M. Allen

Stem Cell Research (Jul 2020)

Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)

Alessia Arbini,
James Gilmore,
Mary D. King,
Kathleen M. Gorman,
Janusz Krawczyk,
Veronica McInerney,
Timothy O'Brien,
Sanbing Shen,
Nicholas M. Allen

Affiliations

Alessia Arbini: Regenerative Medicine Institute, School of Medicine, National University of Ireland Galway, Ireland
James Gilmore: Regenerative Medicine Institute, School of Medicine, National University of Ireland Galway, Ireland
Mary D. King: Department of Paediatric Neurology & Clinical Neurophysiology, Children’s Health Ireland at Temple St. Children’s University Hospital, Dublin 1, Ireland; School of Medicine and Medical Sciences, University College Dublin, Ireland
Kathleen M. Gorman: Department of Paediatric Neurology & Clinical Neurophysiology, Children’s Health Ireland at Temple St. Children’s University Hospital, Dublin 1, Ireland; School of Medicine and Medical Sciences, University College Dublin, Ireland
Janusz Krawczyk: Department of Haematology, Galway University Hospital, Ireland
Veronica McInerney: HRB Clinical Research Facility, National University of Ireland Galway, Ireland
Timothy O'Brien: Regenerative Medicine Institute, School of Medicine, National University of Ireland Galway, Ireland
Sanbing Shen: Regenerative Medicine Institute, School of Medicine, National University of Ireland Galway, Ireland; FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin D02, Ireland; Corresponding authors at: Regenerative Medicine Institute, School of Medicine, National University of Ireland Galway, Biomedical Science Building BMS-1021, Dangan, Ireland (S. Shen), Department of Paediatrics, School of Medicine, National University of Ireland Galway, Ireland (N.M. Allen).
Nicholas M. Allen: Department of Paediatrics, School of Medicine, National University of Ireland Galway, Ireland; Regenerative Medicine Institute, School of Medicine, National University of Ireland Galway, Ireland; Corresponding authors at: Regenerative Medicine Institute, School of Medicine, National University of Ireland Galway, Biomedical Science Building BMS-1021, Dangan, Ireland (S. Shen), Department of Paediatrics, School of Medicine, National University of Ireland Galway, Ireland (N.M. Allen).

Journal volume & issue: Vol. 46
p. 101853

Abstract

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De novo pathogenic variants in KCNA2 are implicated in causing a spectrum of human neurological disorders, in particular developmental and epileptic encephalopathies. KCNA2 encodes the voltage-gated delayed rectifier potassium channel Kv1.2, which is vital in regulating neuronal membrane potential and repolarization. In this study, we generated three iPSC lines with non-integrating Sendai viral vectors from dermal fibroblasts of an 11-year old female patient harboring the KCNA2 c.869T>G (p.Leu290Arg) pathogenic variant. The iPSC lines were validated with standardized procedures including the targeted mutation, free of transgene integration, SNP karyotyping, pluripotent gene expression, and differentiation capacity into three embryonic germ layers.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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