Generation of a human induced pluripotent stem cell line (SMUSHi001-A) from a patient with 46, XX male sex reversal syndrome carrying the SRY gene
Summary
The 46, XX male sex reversal syndrome (SRS) is a rare disease with a gender dysplasia phenotype. Scientists concur that SRS is associated with translocation of the sex-determining region Y gene (SRY). We obtained peripheral blood mononuclear cells (PBMCs)from an 18-year-old male with SRS to generate an induced pluripotent stem cell (iPSC) line (SMUSHi001-A). Karyotyping analysis of the patient PBMCs revealed a normal 46, XX karyotype carrying the SRY gene. Pluripotent markers were successfully detected in SMUSHi001-A which can be differentiated into three germ layers in vitro. This cell line will provide a cell model for exploring the pathogenesis and potential therapeutic methods of SRS. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Yan R, Wu S, Wang W, Chu M, Liu P |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Jul;54:102397 |
| PubMed | 34098200 |
| DOI | 10.1016/j.scr.2021.102397 |