Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant

被引：0
|
作者：
Arunachal, Gautham [1 ]
Nimonkar, Madhura Milind [2 ]
Mahadeva, Pavithra [4 ]
Sukrutha, Ramya [1 ]
Raghavendra, Kenchaiah [3 ]
Chetan, Ghati K. [2 ]
Venkataswamy, Manjunatha M. [4 ]
Mehta, Bhupesh [2 ]
Markandeya, Yogananda S. [2 ]
机构：
[1] Natl Inst Mental Hlth & Neuro Sci NIMHANS, Dept Human Genet, Bengaluru, Karnataka, India
[2] Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Biophys, Bengaluru, India
[3] Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Neurol, Bengaluru, India
[4] Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Neurovirol, Bengaluru, India
来源：
STEM CELL RESEARCH | 2024年 / 81卷
关键词：
D O I：
10.1016/j.scr.2024.103573
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
The iPSC line NIMHi013-A was generated from peripheral blood mononuclear cells of a paediatric patient with drug resistant epilepsy. The proband was found to have a likely pathogenic missense variant in the SCN1A gene in heterozygous state, which segregated in the affected in dominant fashion. The variant is in the Nav1.1 subunit of the voltage gated sodium ion channel. The iPSCs were generated using Sendai virus-based reprogramming. These iPSCs express pluripotent markers, present a normal karyotype and could differentiate into three germ layers. The iPSC line NIMHi013-A can be used to investigate epileptogenesis in vitro. .
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页数：5
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