从一名患有X连锁 Lowe 综合征的患者建立患者特异性诱导多能干细胞系 SDUBMSi009-A。
Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome.
作者信息
Liu Xiaolin, Liu Yong, Ma Yanyan, Gong Yaoqin, Liu Qiji, Sun Wenjie, Guo Hui
机构信息
Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China.
Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China.
出版信息
Stem Cell Res. 2021 Mar;51:102171. doi: 10.1016/j.scr.2021.102171. Epub 2021 Jan 13.
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连锁的洛氏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主要异常。编码肌醇多磷酸5-磷酸酶的OCRL基因在发生突变时与洛氏综合征相关。在此，我们报告了SDUBMSi009-A的建立，这是一种通过非整合重编程技术从携带OCRL基因剪接变体（c. 940-11G>A）的患者中获得的诱导多能干细胞系。该诱导多能干细胞系表现出强大的多能性特征，包括表达多能性标志物以及分化为三个胚层的潜力。同时，该诱导多能干细胞系保持正常的男性核型。
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