Cellosaurus logo
expasy logo

Cellosaurus UEFi004-A (CVCL_D0N4)

[Text version]
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; 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
Singh S., Plotnikova L., Karvonen K., Ryytty S., Hypponen J., Kalviainen R., Hamalainen R.H.
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)

Cross-references
Cell line databases/resources hPSCreg; UEFi004-A
Biological sample resources BioSamples; SAMEA114492943
Encyclopedic resources Wikidata; Q123033694
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3