Cellosaurus cell line UNIMGi004-A (CVCL

Cross-references
Cell line name	UNIMGi004-A
Synonyms	ULD2
Accession	CVCL_A7LA
Resource Identification Initiative	To cite this cell line use: UNIMGi004-A (RRID:CVCL_A7LA)
Comments	From: Universita degli Studi Magna Graecia di Catanzaro; Catanzaro; Italy. Population: Caucasian; Italian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2482; CSTB; Repeat_expansion; c.-210CCCCGCCCCGCG[(2_3)]; ClinVar=VCV000008398; Zygosity=Unspecified (PubMed=33865103).
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	Female
Age at sampling	48Y
Category	Induced pluripotent stem cell
Publications	PubMed=33865103; DOI=10.1016/j.scr.2021.102329 Lucchino V., Scaramuzzino L., Scalise S., Grillone K., Lo Conte M., Esposito C., Aguglia U., Ferlazzo E., Perrotti N., Malatesta P., Parrotta E.I., Cuda G. Generation of human induced pluripotent stem cell lines (UNIMGi003-A and UNIMGi004-A) from two Italian siblings affected by Unverricht-Lundborg disease. Stem Cell Res. 53:102329-102329(2021)
Cell line databases/resources	hPSCreg; UNIMGi004-A
Encyclopedic resources	Wikidata; Q107117342
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6