Bibliographic Details
| Title: |
Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A) |
| Authors: |
Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Vincent des Portes, David Germanaud, Doris Steinemann, Gudrun Göhring, Renate König |
| Source: |
Stem Cell Research, Vol 41, Iss , Pp - (2019) |
| Publisher Information: |
Elsevier, 2019. |
| Publication Year: |
2019 |
| Collection: |
LCC:Biology (General) |
| Subject Terms: |
Biology (General), QH301-705.5 |
| More Details: |
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). |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1873-5061 |
| Relation: |
http://www.sciencedirect.com/science/article/pii/S1873506119302223; https://doaj.org/toc/1873-5061 |
| DOI: |
10.1016/j.scr.2019.101592 |
| Access URL: |
https://doaj.org/article/357b2ee2ab3e46e3991df1b14c7876f6 |
| Accession Number: |
edsdoj.357b2ee2ab3e46e3991df1b14c7876f6 |
| Database: |
Directory of Open Access Journals |
