An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene
Summary
Vici syndrome is a rare, congenital disorder that affects multiple systems and is caused by mutations in the EPG5 gene that encodes for ectopic P-granules autophagy protein 5 (EPG5). The induced pluripotent stem cell (iPSC) line described here was generated from a dermal fibroblast cell line from an 8-year-old male donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene. This iPSC model of Vici syndrome provides a unique and valuable resource for investigators to study the pathology of EPG5 mutations and the aetiology of the disease as well as develop therapeutic treatments for those with Vici syndrome. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Mitchell MW, Grandizio C, Turan N, Requesens DV |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Aug;63:102833 |
| PubMed | 35700637 |
| PubMed Central | PMC9375524 |
| DOI | 10.1016/j.scr.2022.102833 |