Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy
Summary
Developmental and epileptic encephalopathies (DEEs) are early-onset conditions that cause intractable seizures and developmental delays. Missense variants in Gamma-aminobutyric acid type A receptor (GABAAR) subunits commonly cause DEEs. Ahring et al. (2022) showed a variant in the gene that encodes the delta subunit (GABRD) is strongly associated with the gain-of-function of extrasynaptic GABAAR. Here, we report the generation of two patient-specific human induced pluripotent stem cells (hiPSC) lines with (i) a de novo variant and (ii) a maternal variant, both for the pathogenic GABRD c.872 C>T, (p.T291I). The variants in the generated cell line were corrected using the CRISPR-Cas9 gene editing technique (respective isogenic control lines). Copyright © 2024. Published by Elsevier B.V.
| Authors | Kamand M, Taleb R, Wathikthinnakon M, Mohamed FA, Ghazanfari SP, Konstantinov D, Hald JL, Holst B, Brasch-Andersen C, Møller RS, Lemke JR, Krey I, Freude K, Chandrasekaran A |
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| Journal | Stem cell research |
| Publication Date | 2024 Apr;76:103372 |
| PubMed | 38458029 |
| DOI | 10.1016/j.scr.2024.103372 |