X-linked Lowe syndrome is a multisystem disorder showing major abnormalities in the eyes, kidneys and central nervous system. OCRL gene, which encodes an inositol polyphosphate 5-phosphatase, is associated with Lowe syndrome when mutated. Here we report the establishment of SDUBMSi009-A, an induced pluripotent stem cell line derived from patient carrying splicing variant (c. 940-11G>A) of OCRL gene by non-integrative reprogramming technology. The iPSC line showed strong pluripotent characteristics, including expressing pluripotent markers and potential to differentiate into the three germ layers. In the meanwhile, the iPSC line kept a normal male karyotype.

X连锁Lowe综合征是一种多系统疾病，在眼睛，肾脏和中枢神经系统中表现出严重异常。编码肌醇多磷酸5-磷酸酶的OCRL基因在突变时与Lowe综合征相关。在这里我们报告了SDUBMSi009-A的建立，它是通过非整合重编程技术从携带OCRL基因剪接变体（c。940-11G> A）的患者体内衍生的多能干细胞系。iPSC品系显示出强大的多能性特征，包括表达多能性标志物和分化为三个胚层的潜力。同时，iPSC品系保持正常的男性核型。