Autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures (NDHMSD) is a rare neurological disorder characterized by neurodevelopmental disorder and hyperkinetic movement, with or without seizures. Heterozygous mutation in the encoding the subunit 1 of the N-methyl-D-aspartate receptor caused this disorder. We first established an induced pluripotent stem cell (iPSC) line from a male patient with c.389A > G mutation in the , via reprogramming with KLF4, SOX2, OCT3/4, and c-MYC. Through identification examination, the iPSCs (GWCMCi006-A) stably expressed pluripotency-associated stem cell markers, maintained a normal karyotype, and showed proliferative potential for three-germ layers differentiation.

中文翻译：

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从患有常染色体显性神经发育障碍（伴有或不伴有多动运动和癫痫发作）且携带 GRIN1 c.389A > G 突变的患者中生成诱导多能干细胞系 GWCMCi006-A

常染色体显性遗传性神经发育障碍伴或不伴多动性运动和癫痫发作 (NDHMSD) 是一种罕见的神经系统疾病，其特征是神经发育障碍和多动性运动，伴或不伴癫痫发作。编码 N-甲基-D-天冬氨酸受体亚基 1 的杂合突变导致了这种疾病。我们首先通过使用 KLF4、SOX2、OCT3/4 和 c-MYC 重编程，从具有 c.389A > G 突变的男性患者中建立了诱导多能干细胞 (iPSC) 系。经鉴定检查，iPSCs（GWCMCi006-A）稳定表达多能性相关干细胞标志物，保持正常核型，并表现出三胚层分化的增殖潜力。