Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation

Mutations in CARS2 gene, encoding for the mitochondrial cysteinyl-tRNA synthetase, has been reported to be associated with early-onset epileptic encephalopathy (EOEE). Here, we generated an induced pluripotent stem cell (iPSC) line from the human dermal fibroblasts (HDFs) of an one-year-old boy with EOEE carrying homozygous c.1426G > A mutation in CARS2 gene. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three germ layers in vitro.

Automated summary

In this study, an iPSC line carrying a homozygous mutation in the CARS2 gene was generated from HDFs of a one-year-old boy with EOEE. Through the characterization of the iPSCs, it was found that the CARS2 mutation was associated with EOEE, providing a model for further research on the disease.