摘要
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.
| 源语言 | 英语 |
|---|---|
| 文章编号 | 102171 |
| 期刊 | Stem Cell Research |
| 卷 | 51 |
| DOI | |
| 出版状态 | 已出版 - 3月 2021 |
| 已对外发布 | 是 |
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