Generation of an induced pluripotent stem cell line (GWCMCi005-A) from a patient with Lennox-Gastaut syndrome carrying TANC2 Gln1441Ter mutation
Summary
Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy, which may arise from genetic etiologies. TANC2 mutation may cause the neurodevelopmental disorders and epilepsy such as LGS. By reprogramming with SOX2, KLF4, c-MYC and OCT3/4, we generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) collected from a two-year-old Chinese boy individual to be used as a disease model with TANC2 mutation. By fully examination, the resulting iPSCs expressed pluripotency-associated stem cell markers, maintained the normal karyotype and proliferative potential for three-germ layer differentiation. Copyright © 2022. Published by Elsevier B.V.
| Authors | Tian Y, Shi Z, Liao Y, Cai J, Li W, Li X, Chen WX |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Apr;60:102667 |
| PubMed | 35066241 |
| DOI | 10.1016/j.scr.2022.102667 |