ARID1B haploinsufficiency induced by missense or nonsense mutations of ARID1B is a cause of Coffin-Siris syndrome (CSS), a neurodevelopmental disorder associated with intellectual disability. At present, no appropriate human stem cell model for ARID1B-associated CSS has been reported. Here, we describe the generation and validation of ARID1B^+/- hESCs by introducing out of frame deletions into exon 5 or 6 of ARID1B with CRISPR/Cas9 genome editing. These ARID1B^+/- hESC lines allow to study the pathophysiology of ARID1B-associated CSS in 2D and 3D models of human neurodevelopment.

由 ARID1B 错义或无义突变引起的 ARID1B 单倍体不足是 Coffin-Siris 综合征 (CSS) 的一个原因，CSS 是一种与智力障碍相关的神经发育障碍。目前，尚无合适的 ARID1B 相关 CSS 人类干细胞模型的报道。在这里，我们通过 CRISPR/Cas9 基因组编辑将框外删除引入 ARID1B 的外显子 5 或 6，描述了 ARID1B ^+/- hESC 的生成和验证。这些 ARID1B ^+/- hESC 系允许在人类神经发育的 2D 和 3D 模型中研究 ARID1B 相关 CSS 的病理生理学。