Cellosaurus cell line UEFi004-A (CVCL

Cross-references
Cell line name	UEFi004-A
Synonyms	EPM1-49
Accession	CVCL_D0N4
Resource Identification Initiative	To cite this cell line use: UEFi004-A (RRID:CVCL_D0N4)
Comments	From: University of Eastern Finland; Kuopio; Finland. Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2482; CSTB; Repeat_expansion; c.-210CCCCGCCCCGCG[(2_3)]; ClinVar=VCV000008398; Zygosity=Homozygous (PubMed=37951142).
Disease	Myoclonic epilepsy of Unverricht and Lundborg (NCIt: C179710) Unverricht-Lundborg disease (ORDO: Orphanet_308)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	36Y
Category	Induced pluripotent stem cell
Publications	PubMed=37951142; DOI=10.1016/j.scr.2023.103248 Shekhar Singh, Lidiia Plotnikova, Kalle Karvonen, Sanna Ryytty, Jelena Hypponen, Reetta Kalviainen, Riikka H. Hamalainen; Generation of a human induced pluripotent stem cell line (UEFi004-A) from a patient with progressive myoclonic epilepsy type 1 (EPM1). Stem Cell Res. 73:103248-103248(2023)
Cell line databases/resources	hPSCreg; UEFi004-A
Biological sample resources	BioSamples; SAMEA114492943
Encyclopedic resources	Wikidata; Q123033694
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4