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

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

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.

In: Stem Cell Research, Vol. 71, 103193, 2023.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

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, vol. 71, 103193. https://doi.org/10.1016/j.scr.2023.103193

APA

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

Vancouver

Rivera-Sánchez P, Søndergaard L, Wathikthinnakon M, B. D. Magnusson H, Frederiksen HR, Aabæk Hammer F et al. Generation of eight hiPSCs lines from two pathogenic variants in CACNA1A using the CRISPR-Cas9 gene editing technology. Stem Cell Research. 2023;71. 103193. https://doi.org/10.1016/j.scr.2023.103193

Author

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. In: Stem Cell Research. 2023 ; Vol. 71.

Bibtex

@article{ab4abe9c11e9475b866df5c19856c731,
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.",
author = "Paula Rivera-S{\'a}nchez and Line S{\o}ndergaard and Methi Wathikthinnakon and {B. D. Magnusson}, Helena and Frederiksen, {Henriette R.} and {Aab{\ae}k Hammer}, Freja and Reema Taleb and {Christian Cassidy}, Conan and {Tranholm Bruun}, Mads and Zeynep T{\"u}mer and Bj{\o}rn Holst and Charlotte Brasch-Andersen and Rikke M{\o}ller and Kristine Freude and Abinaya Chandrasekaran",
note = "Publisher Copyright: {\textcopyright} 2023",
year = "2023",
doi = "10.1016/j.scr.2023.103193",
language = "English",
volume = "71",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",

}

RIS

TY - JOUR

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

N1 - Publisher Copyright: © 2023

PY - 2023

Y1 - 2023

N2 - 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.

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.

U2 - 10.1016/j.scr.2023.103193

DO - 10.1016/j.scr.2023.103193

M3 - Journal article

C2 - 37651830

AN - SCOPUS:85169922411

VL - 71

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

M1 - 103193

ER -

ID: 367293693