Home  |  Contact
Due to scheduled maintenance work, this service will not be available from Tuesday August 23rd 06:00 pm until Wednesday August 24th 08:00 am CEST. Apologies for the inconvenience.

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 sampling site: Skin. Cell type=Fibroblast.
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 update17-Mar-2022
Version number3