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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.

Stem cell research - 1 Aug 2022

Mitchell Matthew W, Grandizio Christine, Turan Nahid, Requesens Deborah V

Abstract excerpt

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...

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Identifiers

PMID: 35700637
DOI: 10.1016/j.scr.2022.102833
PMCID: PMC9375524

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