Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) is a rare autosomal dominant disorder caused by a heterozygous mutation in the gene on chromosome 19q13. Here, we describe the generation and characterization of an iPSC line derived from the peripheral blood of a 7-year-old patient carrying a novel heterozygous mutation in (c.625 del). The iPSCs with the confirmed patient-specific mutation were demonstrated by pluripotency markers, a normal karyotype, and the ability to differentiate into three germ layers. This -mutant iPSC line could facilitate disease modeling and therapy development studies for NEDASB.

中文翻译：

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从一名具有截短 NOVA2 变异 (c.625del) 的 7 岁患者的 PBMC 中衍生出诱导多能干细胞系 (FDCHi014-A)

伴有或不伴有自闭症特征和/或大脑结构异常的神经发育障碍 (NEDASB) 是一种罕见的常染色体显性遗传疾病，由染色体 19q13 上的基因杂合突变引起。在这里，我们描述了来自一名携带 (c.625 del) 新型杂合突变的 7 岁患者外周血的 iPSC 系的产生和表征。多能性标记、正常核型以及分化成三个胚层的能力证明了具有已确认的患者特异性突变的 iPSC。这种突变的 iPSC 系可以促进 NEDASB 的疾病建模和治疗开发研究。