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

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

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 v...

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Main Authors: Gautham Arunachal, Madhura Milind Nimonkar, Pavithra Mahadeva, Ramya Sukrutha, Kenchaiah Raghavendra, Ghati K. Chetan, Manjunatha M. Venkataswamy, Bhupesh Mehta, Yogananda S. Markandeya
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S187350612400271X
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