Generation of an induced pluripotent stem cell line (ZJUi013-A) from a Familial cortical myoclonic tremor with epilepsy type 1 patient carrying (TTTCA)(n) insertion in the SAMD12 gene
Summary
FCMTE1 is an autosomal dominant inherited neurodegenerative disorder characterized by myoclonic tremors and epilepsy. The cause of FCMTE1 is an abnormal (TTTCA)n insertion in intron 4 of SAMD12 gene. Fibroblasts obtained from a FCMTE1 patient were successfully transformed into induced pluripotent stem cells (iPSCs) (ZJUi013-A) using the Sendai virus. Our approach provided a resource for further pathogenesis study and drug screening of FCMTE1. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Zhang F, Chen S, Chen Y, Chen X, Cen Z, Luo W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Dec;73:103236 |
| PubMed | 37890330 |
| DOI | 10.1016/j.scr.2023.103236 |