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 Valeria Lucchino, Luana Scaramuzzino, Stefania Scalise, Katia Grillone, Michela Lo Conte, Claudia Esposito, Umberto Aguglia, Edoardo Ferlazzo, Nicola Perrotti, Paola Malatesta, Elvira Immacolata Parrotta, Giovanni Cuda; 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