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Cellosaurus UNIMGi001-A (CVCL_A1XH)

[Text version]

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 sampling site: Skin. Cell type=Fibroblast.
Sequence variations
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)

Cross-references
Cell line databases/resources hPSCreg; UNIMGi001-A
Encyclopedic resources Wikidata; Q105511638
Entry history
Entry creation12-Jan-2021
Last entry update17-Mar-2022
Version number3