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

被引：2
|
作者：
Mitchell, Matthew W. [1 ]
Grandizio, Christine [1 ]
Turan, Nahid [1 ]
Requesens, Deborah V. [1 ,2 ]
机构：
[1] Coriell Inst Med Res, Camden, NJ 08103 USA
[2] Univ Penn, Orphan Dis Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA
来源：
STEM CELL RESEARCH | 2022年 / 63卷
关键词：
D O I：
10.1016/j.scr.2022.102833
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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.
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页数：5
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