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 S
AU - Freude, Kristine
AU - Chandrasekaran, Abinaya
N1 - Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
PY - 2023/9
Y1 - 2023/9
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.
KW - Humans
KW - CRISPR-Cas Systems/genetics
KW - Gene Editing
KW - Induced Pluripotent Stem Cells
KW - Calcium
KW - Cell Differentiation
KW - Calcium Channels
U2 - 10.1016/j.scr.2023.103193
DO - 10.1016/j.scr.2023.103193
M3 - Article
C2 - 37651830
SN - 1873-5061
VL - 71
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 103193
ER -