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