Characterisation of the induced pluripotent stem cell line NIMHi012-A derived from PBMCs of an epilepsy patient with a pathogenic variant in SCN1A gene
Summary
We report successful characterisation of the iPSC line NIMHi012-A, generated from the PBMCs of a patient with generalized epilepsy with febrile seizures plus (GEFS+). The mycoplasma-free cells expressed pluripotency markers, showed trilineage differentiation potential and had a normal karyotype. This cell line will serve as a platform to investigate the disease mechanism and develop novel patient-specific therapeutic strategies. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Nimonkar MM, Sukrutha R, Raghavendra K, Padmanabha H, Chetan GK, Mehta B, Markandeya YS, Arunachal G |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Oct;88:103809 |
| PubMed | 40848398 |
| DOI | 10.1016/j.scr.2025.103809 |