Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A)
Summary
The Renpenning syndrome spectrum is a rare X-linked mental retardation syndrome characterized by intellectual disability, microcephaly, low stature, lean body and hypogonadism. Mutations in the polyglutamine tract binding protein 1 (PQBP1) locus are causative for disease. Here, we describe the generation of an iPSC line from a patient mutated in the polar amino acid-rich domain of PQBP1 resulting in a C-terminal truncated protein (c.459_462 delAGAG, type p.R153fs193X). Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Fuchs NV, Schieck M, Neuenkirch M, Tondera C, Schmitz H, des Portes V, Germanaud D, Steinemann D, Göhring G, König R |
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| Journal | Stem cell research |
| Publication Date | 2019 Dec;41:101592 |
| PubMed | 31698189 |
| DOI | 10.1016/j.scr.2019.101592 |