Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A)


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
Journal Stem cell research
Publication Date 2019 Dec;41:101592
PubMed 31698189
DOI 10.1016/j.scr.2019.101592

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