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...

Descripción completa

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
_version_ 1784767982962999296
author Mitchell, Matthew W.
Grandizio, Christine
Turan, Nahid
Requesens, Deborah V.
author_facet Mitchell, Matthew W.
Grandizio, Christine
Turan, Nahid
Requesens, Deborah V.
author_sort Mitchell, Matthew W.
collection PubMed
description 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.
format Online
Article
Text
id pubmed-9375524
institution National Center for Biotechnology Information
language English
publishDate 2022
record_format MEDLINE/PubMed
spelling pubmed-93755242022-08-13 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 Mitchell, Matthew W. Grandizio, Christine Turan, Nahid Requesens, Deborah V. Stem Cell Res Article 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. 2022-08 2022-06-08 /pmc/articles/PMC9375524/ /pubmed/35700637 http://dx.doi.org/10.1016/j.scr.2022.102833 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Mitchell, Matthew W.
Grandizio, Christine
Turan, Nahid
Requesens, Deborah V.
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Article
url 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
work_keys_str_mv AT mitchellmattheww aninducedpluripotentstemcelllinecimri001afromavicisyndromedonorwithahomozygousrecessivec1007agpq336rmutationintheepg5gene
AT grandiziochristine aninducedpluripotentstemcelllinecimri001afromavicisyndromedonorwithahomozygousrecessivec1007agpq336rmutationintheepg5gene
AT turannahid aninducedpluripotentstemcelllinecimri001afromavicisyndromedonorwithahomozygousrecessivec1007agpq336rmutationintheepg5gene
AT requesensdeborahv aninducedpluripotentstemcelllinecimri001afromavicisyndromedonorwithahomozygousrecessivec1007agpq336rmutationintheepg5gene
AT mitchellmattheww inducedpluripotentstemcelllinecimri001afromavicisyndromedonorwithahomozygousrecessivec1007agpq336rmutationintheepg5gene
AT grandiziochristine inducedpluripotentstemcelllinecimri001afromavicisyndromedonorwithahomozygousrecessivec1007agpq336rmutationintheepg5gene
AT turannahid inducedpluripotentstemcelllinecimri001afromavicisyndromedonorwithahomozygousrecessivec1007agpq336rmutationintheepg5gene
AT requesensdeborahv inducedpluripotentstemcelllinecimri001afromavicisyndromedonorwithahomozygousrecessivec1007agpq336rmutationintheepg5gene

Ejemplares similares