Incontinentia pigmenti (IP) is an X-linked dominant neuroectodermal dysplasia caused by loss-of-function mutations in the IKBKG gene. Using CRISPR/Cas9 technology, we generated an IKBKG knock-out iPSC line (KICRi002-A-1) on a 46,XY background. The iPSC line showed a normal karyotype, expressed pluripotency markers and exhibited capability to differentiate into the three germ layers in vitro. Off-target editing was excluded and no IKBKG mRNA expression could be detected. Our line offers a useful resource to elucidate mechanisms caused by IKBKG deficiency that leads to disrupted male fetal development and for drug screening to improve treatment of female patients with IP.

色素失禁 (IP) 是由IKBKG基因功能丧失突变引起的 X 连锁显性神经外胚层发育不良。使用 CRISPR/Cas9 技术，我们在 46,XY 背景上生成了IKBKG敲除 iPSC 线 (KICRi002-A-1)。iPSC 系显示出正常的核型，表达多能性标记并表现出在体外分化成三个胚层的能力。排除了脱靶编辑，未检测到IKBKG mRNA 表达。我们的产品线提供了一个有用的资源来阐明由IKBKG缺陷引起的导致男性胎儿发育受阻的机制，以及用于药物筛选以改善对女性 IP 患者的治疗。