Journal
STEM CELL RESEARCH
Volume 73, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2023.103248
Keywords
Epilepsy; EPM1; Unverricht-Lundborg disease; CystatinB
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In this study, iPSCs were generated from the skin fibroblasts of an EPM1 patient and demonstrated the potential to serve as an in-vitro model for studying the mechanisms of EPM1 at the cellular and molecular level.
Progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disorder caused by mutations in the cystatin B gene (CSTB). Affected individual's manifest stimulus-sensitive and action myoclonus and tonic-clonic epileptic seizures. In this study, we have generated iPSCs from an EPM1 patient's skin fibroblasts with Sendai virus mediated transgene delivery. The iPSCs retained the patient specific promoter region expansion mutation, expressed pluripotency markers, differentiated into all three germ layers, and presented a normal karyotype. The line can in future be used to develop an in-vitro model for EPM1 and may help in understanding disease mechanisms at cellular and molecular level.
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