Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2

• DOI: 10.1016/j.scr.2022.102712
• Publication Date: 2022-02-16T16:43:58Z
• Authors: Jens Schuster; Claudia de Guidi; Rekha Tripathi; Joakim Klar; Niklas Dahl
• Keywords: 0301 basic medicine; QH301-705.5; Cell- och molekylärbiologi; Induced Pluripotent Stem Cells; Epilepsies, Myoclonic; NAV1.1 Voltage-Gated Sodium Channel; 03 medical and health sciences; Chromosomes, Human, Pair 2; Mutation; Humans; Biology (General); Epileptic Syndromes; Spasms, Infantile; Cell and Molecular Biology

Dravet syndrome is an early onset devastating epilepsy syndrome usually caused by heterozygous mutations in SCN1A. We generated a human iPSC line (UUIGPi015-A) from dermal fibroblasts of a patient with Dravet syndrome carrying a deletion on chromosome 2 encompassing SCN1A and 9 flanking genes. Characterization of the iPSC line confirmed expression of pluripotency markers, tri-lineage differentiation capacity and absence of exogenous reprogramming factors. The iPSC line retained the deletion and was genomically stable. The iPSC line UUIGPi015-A provides a useful resource for studies on the pathophysiology of Dravet syndrome and seizures caused by haploinsufficiency of SCN1A and flanking gene products.