Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1)
Summary
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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Singh S, Plotnikova L, Karvonen K, Ryytty S, Hyppönen J, Kälviäinen R, Hämäläinen RH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Dec;73:103248 |
| PubMed | 37951142 |
| DOI | 10.1016/j.scr.2023.103248 |