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.
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页数：4
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