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

• Tác giả: Gautham Arunachal, Ghati K Chetan, Ananthapadmanabha Kotambail, Yogananda S Markandeya, Bhupesh Mehta, Madhura Milind Nimonkar, Kenchaiah Raghavendra, Ramya Sukrutha
• Ngôn ngữ: eng
• Thông tin xuất bản: England : Stem cell research , 2025
• Bộ sưu tập: NCBI
• ID: 710148

Tóm tắt

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