Generation of an induced pluripotent stem cell line (FDCHI007-A) derived from a patient with developmental and epileptic encephalopathy Type 31 carrying heterozygous c.545C > A mutation in DNM1 gene
Summary
Developmental and epileptic encephalopathy Type 31 (DEE31) is a severe early infantile epileptic encephalopathy with intellectual and movement disability caused by heterozygous mutations in the Dynamin 1 gene, which encodes DNM1, a GTPase involved in synaptic vesicle fission for receptor-mediated endocytosis on the presynaptic plasma membrane. A human induced pluripotent stem cell (iPSC) line, termed as FDCHI007-A, was generated using non-integrating episomal vector technique from peripheral blood mononuclear cells (PBMCs) of a 3-year-old female DDE31 patient, who had a heterozygous (c.545C > A P. Ala 182Asp) mutation in the DNM1 gene. FDCHI007-A offers a useful cell resource to investigate pathogenic mechanisms in DEE31, as well as a cell-based model for drug development for DEE31. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Xu Y, Wang X, Qiu T, Wang J, Wang Y, Wu B, Zhou Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Apr;60:102709 |
| PubMed | 35184021 |
| DOI | 10.1016/j.scr.2022.102709 |