ID   UNIMGi004-A
AC   CVCL_A7LA
SY   ULD2
DR   hPSCreg; UNIMGi004-A
DR   Wikidata; Q107117342
RX   PubMed=33865103;
CC   From: Universita degli Studi Magna Graecia di Catanzaro; Catanzaro; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 2482; CSTB; Repeat_expansion; c.-210CCCCGCCCCGCG[(2_3)]; ClinVar=VCV000008398; Zygosity=Unspecified (PubMed=33865103).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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   Female
AG   48Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33865103; DOI=10.1016/j.scr.2021.102329;
RA   Lucchino V., Scaramuzzino L., Scalise S., Grillone K., Lo Conte M.,
RA   Esposito C., Aguglia U., Ferlazzo E., Perrotti N., Malatesta P.,
RA   Parrotta E.I., Cuda G.;
RT   "Generation of human induced pluripotent stem cell lines (UNIMGi003-A
RT   and UNIMGi004-A) from two Italian siblings affected by
RT   Unverricht-Lundborg disease.";
RL   Stem Cell Res. 53:102329-102329(2021).
//