An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene
Summary
We report the iPSC line NIMHi014-A, generated from the PBMCs of an epileptic girl child. The proband harbours a de novo, pathogenic variant of the SCN1A gene, which encodes the NaV1.1 subtype of the voltage gated sodium channel. The cell line NIMHi014-A displayed typical iPSC-like morphology, expressed stemness markers and possessed trilineage differentiation potency. The cells presented a normal karyotype and had no mycoplasma contamination. This cell line will be used to study mechanism of epilepsy and develop patient specific therapies. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Nimonkar MM, Arunachal G, Kotambail A, Sukrutha R, Raghavendra K, Chetan GK, Mehta B, Markandeya YS |
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| Journal | Stem cell research |
| Publication Date | 2025 Feb 4;84:103672 |
| PubMed | 39923287 |
| DOI | 10.1016/j.scr.2025.103672 |