Details

Autor(en) / Beteiligte

• Fuchs, Nina V.
• Schieck, Maximilian
• Neuenkirch, Michaela
• Tondera, Christiane
• Schmitz, Heike
• des Portes, Vincent
• Germanaud, David
• Steinemann, Doris
• Göhring, Gudrun
• König, Renate

Titel

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

Ist Teil von

• Stem cell research, 2019-12, Vol.41, p.101592-101592, Article 101592

Ort / Verlag

England: Elsevier B.V

Erscheinungsjahr

2019

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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).