Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome

建立患者特异性诱导性多能干细胞系 SDUBMSi009-A,其来源为 X 连锁 Lowe 综合征患者

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作者:Xiaolin Liu, Yong Liu, Yanyan Ma, Yaoqin Gong, Qiji Liu, Wenjie Sun, Hui Guo

Abstract

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.

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