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Cellosaurus UNIMGi004-A (CVCL_A7LA)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; UNIMGi004-A
Encyclopedic resources Wikidata; Q107117342
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5