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


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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Liu X, Liu Y, Ma Y, Gong Y, Liu Q, Sun W, Guo H
Journal Stem cell research
Publication Date 2021 Mar;51:102171
PubMed 33540283
DOI 10.1016/j.scr.2021.102171

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