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 Jan 8;51:102159
PubMed 33477035
DOI 10.1016/j.scr.2021.102159

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