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

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...

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Detalles Bibliográficos
Autores principales: Mitchell, Matthew W., Grandizio, Christine, Turan, Nahid, Requesens, Deborah V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9375524/
https://www.ncbi.nlm.nih.gov/pubmed/35700637
http://dx.doi.org/10.1016/j.scr.2022.102833

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9375524/
https://www.ncbi.nlm.nih.gov/pubmed/35700637
http://dx.doi.org/10.1016/j.scr.2022.102833

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