Cellosaurus cell line UNIMGi001-A (CVCL_A1XH)

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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; 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 Scalise S., Scaramuzzino L., Lucchino V., Esposito C., Malatesta P., Grillone K., Perrotti N., Cuda G., Parrotta E.I. 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	29-Jun-2023
Version number	5