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 () 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 variant and (ii) a maternal variant, both for the pathogenic 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).

中文翻译：

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生成两种患者特异性 GABRD 变异及其用于癫痫建模的同基因对照

发育性和癫痫性脑病 (DEE) 是早发性疾病，会导致顽固性癫痫发作和发育迟缓。 γ-氨基丁酸 A 型受体 (GABAAR) 亚基的错义变异通常会导致 DEE。阿林等人。 (2022) 表明编码 delta 亚基 () 的基因变异与突触外 GABAAR 的功能获得密切相关。在这里，我们报告了两种患者特异性人类诱导多能干细胞 (hiPSC) 系的产生，其中 (i) 一个变异体和 (ii) 一个母体变异体，均针对致病性 c.872 C>T (p.T291I) 。使用 CRISPR-Cas9 基因编辑技术（各自的同基因对照系）纠正生成的细胞系中的变异。