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

Stem cell research - 1 Mar 2021

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

Abstract excerpt

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...

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PMID: 33540283
DOI: 10.1016/j.scr.2021.102171

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