Generation of an urine-derived induced pluripotent stem cell line WMUi017-A from a X-linked Renpenning syndrome (X-RSY) patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G)
Summary
The mutations of polyglutamine binding protein 1 gene (PQBP1) can lead to the rare inherited X-linked Renpenning syndrome (X-RSY). Here, an induced pluripotent stem cell (iPSC) line WMUi017-A was generated through reprogramming the urine cells of a 5-year-old male X-RSY patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G) using the commercial Sendai virus reprogramming system. The established iPSCs can stably express pluripotent stem cell markers OCT4 and NANOG, and can be induced into three germ layers and maintain a normal karyotype (46, XY) in vitro. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Guo X, Zhang X, Wang L, He L, Ding Y, Chen H, Wang D, Rong X, Shen X, Lin J, Chu M |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Mar;51:102159 |
| PubMed | 33477035 |
| DOI | 10.1016/j.scr.2021.102159 |