An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene

被引：0

作者：

Nimonkar, Madhura Milind ^{[1
]}

Arunachal, Gautham ^{[2
]}

Kotambail, Ananthapadmanabha ^{[2
]}

Sukrutha, Ramya ^{[2
]}

Raghavendra, Kenchaiah ^{[3
]}

Chetan, Ghati K. ^{[2
]}

Mehta, Bhupesh ^{[1
]}

Markandeya, Yogananda S. ^{[1
]}

机构：

[1] Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Biophys, Bengaluru, India

[2] Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Human Genet, Bengaluru, India

[3] Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Neurol, Bengaluru, India

来源：

STEM CELL RESEARCH | 2025年 / 84卷

关键词：

D O I：

10.1016/j.scr.2025.103672

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

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(V)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.

引用

页数：4

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