An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene
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 Na<sub>V</sub>1.1 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.
Authors
- Ananthapadmanabha Kotambail (ORCID: https://orcid.org/0000-0003-0037-5374)
- Yogananda S. Markandeya
- Raghavendra Kenchaiah
- Gautham Arunachal (ORCID: https://orcid.org/0000-0001-9985-7028)
- Madhura Milind Nimonkar (ORCID: https://orcid.org/0000-0001-7820-1513)
- Bhupesh Mehta (ORCID: https://orcid.org/0000-0001-5196-6436)
- Ghati K Chetan
- Ramya Sukrutha
Institutions
- National Institute of Mental Health and Neurosciences (IN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2025-02-05
- DOI
- https://doi.org/10.1016/j.scr.2025.103672
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Indian Council of Medical Research