Generation of a human iPSC line CIPi003-A from a patient with focal epilepsy harboring a heterozygous mutation in DEPDC5 gene
Summary
The DEPDC5 gene (OMIM 614191) has been proven to be a frequent cause of familial and sporadic focal epilepsy. A human induced pluripotent stem cell (iPSC) line was generated from a child diagnosed with focal epilepsy, which was caused by DEDPC5 mutation. The iPSC line expresses high pluripotency markers, carries the DEDPC5 mutation, and can differentiate into three germ layers in vitro. The iPSC lines offer a promising technique for studying the pathogenesis and conducting drug screening of DEDPC5-related epilepsy. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Shen M, Fan S, Wu F, Cheng P, Gao Y, Zheng P, Feng S, Ji X, Chen Q, Zhang X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Oct;72:103195 |
| PubMed | 37722146 |
| DOI | 10.1016/j.scr.2023.103195 |