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

Fan Zhang; Shuqi Chen; Yiling Chen; Xinhui Chen; Zhidong Cen; Wei Luo

doi:10.1016/j.scr.2023.103236

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

Stem Cell Res. 2023 Dec:73:103236. doi: 10.1016/j.scr.2023.103236. Epub 2023 Oct 21.

Authors

Fan Zhang¹, Shuqi Chen¹, Yiling Chen¹, Xinhui Chen¹, Zhidong Cen², Wei Luo³

Affiliations

¹ Department of Neurology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
² Department of Neurology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. Electronic address: cenzd@zju.edu.cn.
³ Department of Neurology, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. Electronic address: luoweirock@zju.edu.cn.

PMID: 37890330
DOI: 10.1016/j.scr.2023.103236

Abstract

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.

MeSH terms

Epilepsy*
Humans
Induced Pluripotent Stem Cells*
Pedigree
Tremor / genetics

Supplementary concepts

Epilepsy, Myoclonic, Benign Adult Familial, Type 1