Induced pluripotent stem cells (iPSCs) derived from a Renpenning Syndrome Patient with c.459_462delAGAG Mutation in PQBP1 (PEIi001-A)

Publication date: Available online 15 October 2019Source: Stem Cell ResearchAuthor(s): Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Vincent des Portes, David Germanaud, Doris Steinemann, Gudrun Göhring, Renate KönigAbstractThe 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).
Source: Stem Cell Research - Category: Stem Cells Source Type: research