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

doi:10.1016/j.scr.2020.101853

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

Research output: Contribution to a Journal (Peer & Non Peer) › Article › peer-review

3 Citations (Scopus)

Abstract

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 K_v1.2, 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.

Original language	English
Article number	101853
Journal	Stem Cell Research
Volume	46
DOIs	https://doi.org/10.1016/j.scr.2020.101853
Publication status	Published - 1 Jul 2020

Authors (Note for portal: view the doc link for the full list of authors)

Authors
Arbini A;Gilmore J;King MD;Gorman KM;Krawczyk J;McInerney V;O'Brien T;Shen S;Allen NM;

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Arbini, A., Gilmore, J., King, M. D., Gorman, K. M., Krawczyk, J., McInerney, V., O'Brien, T., Shen, S., & Allen, N. M. (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). Stem Cell Research, 46, Article 101853. https://doi.org/10.1016/j.scr.2020.101853

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title = "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)",

abstract = "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.",

author = "Alessia Arbini and James Gilmore and King, \{Mary D.\} and Gorman, \{Kathleen M.\} and Janusz Krawczyk and Veronica McInerney and Timothy O'Brien and Sanbing Shen and Allen, \{Nicholas M.\}",

note = "Publisher Copyright: {\textcopyright} 2020 The Authors",

year = "2020",

month = jul,

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doi = "10.1016/j.scr.2020.101853",

language = "English",

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Arbini, A, Gilmore, J, King, MD, Gorman, KM, Krawczyk, J, McInerney, V , O'Brien, T , Shen, S & Allen, NM 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)', Stem Cell Research, vol. 46, 101853. https://doi.org/10.1016/j.scr.2020.101853

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). / Arbini, Alessia; Gilmore, James; King, Mary D. et al.
In: Stem Cell Research, Vol. 46, 101853, 01.07.2020.

Research output: Contribution to a Journal (Peer & Non Peer) › Article › peer-review

TY - JOUR

T1 - 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)

AU - Arbini, Alessia

AU - Gilmore, James

AU - King, Mary D.

AU - Gorman, Kathleen M.

AU - Krawczyk, Janusz

AU - McInerney, Veronica

AU - O'Brien, Timothy

AU - Shen, Sanbing

AU - Allen, Nicholas M.

PY - 2020/7/1

Y1 - 2020/7/1

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85086604677

U2 - 10.1016/j.scr.2020.101853

DO - 10.1016/j.scr.2020.101853

M3 - Article

SN - 1873-5061

VL - 46

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101853

ER -

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)

Abstract

Authors (Note for portal: view the doc link for the full list of authors)

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