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

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

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

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.

Original languageEnglish
Article number102171
JournalStem Cell Research
Volume51
DOIs
StatePublished - Mar 2021
Externally publishedYes

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