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).

Abstract

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.

• Authors: Xiaoling Guo, Xufei Zhang, Linlin Wang, Lingyun He, Yinjuan Ding, Huihui Chen, Dexuan Wang, Xing Rong, Xian Shen, Jian Lin, Maoping Chu
• Journal: Stem cell research (Stem Cell Res) Vol. 51 Pg. 102159 (03 2021) ISSN: 1876-7753 [Electronic] England
• PMID: 33477035 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Chemical References

• DNA-Binding Proteins
• PQBP1 protein, human

Topics

• Cerebral Palsy
• Child, Preschool
• DNA-Binding Proteins (genetics)
• Humans
• Induced Pluripotent Stem Cells
• Male
• Mental Retardation, X-Linked
• Mutation (genetics)