Cellosaurus cell line UNIMGi001-A (CVCL

Cross-references
Cell line name	UNIMGi001-A
Synonyms	SCN1A_mut-1; SCN1Amut-1; SCN1A_Severe
Accession	CVCL_A1XH
Resource Identification Initiative	To cite this cell line use: UNIMGi001-A (RRID:CVCL_A1XH)
Comments	From: Universita degli Studi Magna Graecia di Catanzaro; Catanzaro; Italy. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10585; SCN1A; Simple; p.Met145Thr (c.434T>C); ClinVar=VCV000012896; Zygosity=Heterozygous (PubMed=33370868).
Disease	Febrile seizures, familial, 3A (NCIt: C176016) Generalized epilepsy with febrile seizures-plus (ORDO: Orphanet_36387)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	27Y
Category	Induced pluripotent stem cell
Publications	PubMed=33370868; DOI=10.1016/j.scr.2020.102083 Stefania Scalise, Luana Scaramuzzino, Valeria Lucchino, Claudia Esposito, Paola Malatesta, Katia Grillone, Nicola Perrotti, Giovanni Cuda, Elvira Immacolata Parrotta; Generation of iPSC lines from two patients affected by febrile seizure due to inherited missense mutation in SCN1A gene. Stem Cell Res. 49:102083-102083(2020)
Cell line databases/resources	hPSCreg; UNIMGi001-A
Encyclopedic resources	Wikidata; Q105511638
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6