Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology

Paula Rivera-Sánchez; Line Søndergaard; Methi Wathikthinnakon; Helena B. D. Magnusson; Henriette R. Frederiksen; Freja Aabæk Hammer; Reema Taleb; Conan Christian Cassidy; Mads Tranholm Bruun; Zeynep Tümer; Bjørn Holst; Charlotte Brasch-Andersen; Rikke Møller; Kristine Freude; Abinaya Chandrasekaran

doi:10.1016/j.scr.2023.103193

Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology

Paula Rivera-Sánchez, Line Søndergaard, Methi Wathikthinnakon, Helena B. D. Magnusson, Henriette R. Frederiksen, Freja Aabæk Hammer, Reema Taleb, Conan Christian Cassidy, Mads Tranholm Bruun, Zeynep Tümer, Bjørn Holst, Charlotte Brasch-Andersen, Rikke Møller, Kristine Freude, Abinaya Chandrasekaran^*

^*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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Abstract

Developmental and epileptic encephalopathies (DEEs) are rare severe neurodevelopmental disorders with a cumulative incidence of 1:6.000 live births. Many epileptic conditions arise from single nucleotide variants in CACNA1A (calcium voltage-gated channel subunit alpha1 A), encoding the CaV2.1 calcium channel subunit. Human induced pluripotent stem cells (hiPSCs) are an optimal choice for modeling DEEs, as they can be differentiated in vitro into diverse neuronal subpopulations. Here, we report the generation of hiPSC lines with two pathogenic CACNA1A variants c.1767C > T, p. (Arg589Cys), referred to as R589C and c. 2139G > A, p.(Ala713Thr), referred to as A713T, previously associated with epilepsy. The variants were introduced into a hiPSC line from a healthy individual via CRISPR-Cas9 gene editing technology.

Originalsprog	Engelsk
Artikelnummer	103193
Tidsskrift	Stem Cell Research
Vol/bind	71
ISSN	1873-5061
DOI	https://doi.org/10.1016/j.scr.2023.103193
Status	Udgivet - 2023

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Publisher Copyright:
© 2023

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10.1016/j.scr.2023.103193Licens: CC BY

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Citationsformater

Rivera-Sánchez, P., Søndergaard, L., Wathikthinnakon, M., B. D. Magnusson, H., Frederiksen, H. R., Aabæk Hammer, F., Taleb, R., Christian Cassidy, C., Tranholm Bruun, M., Tümer, Z., Holst, B., Brasch-Andersen, C., Møller, R., Freude, K., & Chandrasekaran, A. (2023). Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology. Stem Cell Research, 71, [103193]. https://doi.org/10.1016/j.scr.2023.103193

Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology. / Rivera-Sánchez, Paula; Søndergaard, Line; Wathikthinnakon, Methi; B. D. Magnusson, Helena; Frederiksen, Henriette R.; Aabæk Hammer, Freja; Taleb, Reema; Christian Cassidy, Conan; Tranholm Bruun, Mads; Tümer, Zeynep; Holst, Bjørn; Brasch-Andersen, Charlotte; Møller, Rikke; Freude, Kristine ; Chandrasekaran, Abinaya.

I: Stem Cell Research, Bind 71, 103193, 2023.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Rivera-Sánchez, P, Søndergaard, L, Wathikthinnakon, M, B. D. Magnusson, H, Frederiksen, HR, Aabæk Hammer, F, Taleb, R, Christian Cassidy, C, Tranholm Bruun, M, Tümer, Z, Holst, B, Brasch-Andersen, C, Møller, R, Freude, K & Chandrasekaran, A 2023, 'Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology', Stem Cell Research, bind 71, 103193. https://doi.org/10.1016/j.scr.2023.103193

Rivera-Sánchez, Paula ; Søndergaard, Line ; Wathikthinnakon, Methi ; B. D. Magnusson, Helena ; Frederiksen, Henriette R. ; Aabæk Hammer, Freja ; Taleb, Reema ; Christian Cassidy, Conan ; Tranholm Bruun, Mads ; Tümer, Zeynep ; Holst, Bjørn ; Brasch-Andersen, Charlotte ; Møller, Rikke ; Freude, Kristine ; Chandrasekaran, Abinaya. / Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology. I: Stem Cell Research. 2023 ; Bind 71.

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title = "Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology",

abstract = "Developmental and epileptic encephalopathies (DEEs) are rare severe neurodevelopmental disorders with a cumulative incidence of 1:6.000 live births. Many epileptic conditions arise from single nucleotide variants in CACNA1A (calcium voltage-gated channel subunit alpha1 A), encoding the CaV2.1 calcium channel subunit. Human induced pluripotent stem cells (hiPSCs) are an optimal choice for modeling DEEs, as they can be differentiated in vitro into diverse neuronal subpopulations. Here, we report the generation of hiPSC lines with two pathogenic CACNA1A variants c.1767C > T, p. (Arg589Cys), referred to as R589C and c. 2139G > A, p.(Ala713Thr), referred to as A713T, previously associated with epilepsy. The variants were introduced into a hiPSC line from a healthy individual via CRISPR-Cas9 gene editing technology.",

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doi = "10.1016/j.scr.2023.103193",

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T1 - Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology

AU - Rivera-Sánchez, Paula

AU - Søndergaard, Line

AU - Wathikthinnakon, Methi

AU - B. D. Magnusson, Helena

AU - Frederiksen, Henriette R.

AU - Aabæk Hammer, Freja

AU - Taleb, Reema

AU - Christian Cassidy, Conan

AU - Tranholm Bruun, Mads

AU - Tümer, Zeynep

AU - Holst, Bjørn

AU - Brasch-Andersen, Charlotte

AU - Møller, Rikke

AU - Freude, Kristine

AU - Chandrasekaran, Abinaya

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AB - Developmental and epileptic encephalopathies (DEEs) are rare severe neurodevelopmental disorders with a cumulative incidence of 1:6.000 live births. Many epileptic conditions arise from single nucleotide variants in CACNA1A (calcium voltage-gated channel subunit alpha1 A), encoding the CaV2.1 calcium channel subunit. Human induced pluripotent stem cells (hiPSCs) are an optimal choice for modeling DEEs, as they can be differentiated in vitro into diverse neuronal subpopulations. Here, we report the generation of hiPSC lines with two pathogenic CACNA1A variants c.1767C > T, p. (Arg589Cys), referred to as R589C and c. 2139G > A, p.(Ala713Thr), referred to as A713T, previously associated with epilepsy. The variants were introduced into a hiPSC line from a healthy individual via CRISPR-Cas9 gene editing technology.

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DO - 10.1016/j.scr.2023.103193

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JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

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