{"entity": "publication", "iuid": "6b50e579767d4fbe82bcacba2c9c4554", "timestamp": "2026-08-22T06:56:00.875Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6b50e579767d4fbe82bcacba2c9c4554.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6b50e579767d4fbe82bcacba2c9c4554"}}, "title": "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.", "authors": [{"family": "Schuster", "given": "Jens", "initials": "J"}, {"family": "de Guidi", "given": "Claudia", "initials": "C"}, {"family": "Tripathi", "given": "Rekha", "initials": "R"}, {"family": "Klar", "given": "Joakim", "initials": "J"}, {"family": "Dahl", "given": "Niklas", "initials": "N"}], "type": "journal article", "published": "2022-04-00", "journal": {"title": "Stem Cell Res", "issn": "1876-7753", "volume": "60", "pages": "102712", "issn-l": "1873-5061"}, "abstract": "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.", "doi": "10.1016/j.scr.2022.102712", "pmid": "35203050", "labels": [], "xrefs": [{"db": "pii", "key": "S1873-5061(22)00061-7"}], "notes": [], "created": "2026-08-21T11:28:52.517Z", "modified": "2026-08-21T11:28:52.544Z"}