ID   UEFi004-A
AC   CVCL_D0N4
SY   EPM1-49
DR   BioSamples; SAMEA114492943
DR   hPSCreg; UEFi004-A
DR   Wikidata; Q123033694
RX   PubMed=37951142;
CC   From: University of Eastern Finland; Kuopio; Finland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2482; CSTB; Repeat_expansion; c.-210CCCCGCCCCGCG[(2_3)]; ClinVar=VCV000008398; Zygosity=Homozygous (PubMed=37951142).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C179710; Myoclonic epilepsy of Unverricht and Lundborg
DI   ORDO; Orphanet_308; Unverricht-Lundborg disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
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RX   PubMed=37951142; DOI=10.1016/j.scr.2023.103248;
RA   Singh, Shekhar
RA   Plotnikova, Lidiia
RA   Karvonen, Kalle
RA   Ryytty, Sanna
RA   Hypponen, Jelena
RA   Kalviainen, Reetta
RA   Hamalainen, Riikka H.
RT   "Generation of a human induced pluripotent stem cell line (UEFi004-A)
RT   from a patient with progressive myoclonic epilepsy type 1 (EPM1).";
RL   Stem Cell Res. 73:103248-103248(2023).
//