Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant
Summary
The iPSC line NIMHi013-A was generated from peripheral blood mononuclear cells of a paediatric patient with drug resistant epilepsy. The proband was found to have a likely pathogenic missense variant in the SCN1A gene in heterozygous state, which segregated in the affected in dominant fashion. The variant is in the Nav1.1 subunit of the voltage gated sodium ion channel. The iPSCs were generated using Sendai virus-based reprogramming. These iPSCs express pluripotent markers, present a normal karyotype and could differentiate into three germ layers. The iPSC line NIMHi013-A can be used to investigate epileptogenesis in vitro. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Arunachal G, Nimonkar MM, Mahadeva P, Sukrutha R, Raghavendra K, Chetan GK, Venkataswamy MM, Mehta B, Markandeya YS |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103573 |
| PubMed | 39383605 |
| DOI | 10.1016/j.scr.2024.103573 |