Cellosaurus cell line UCLi026-A (CVCL

Cross-references
Cell line name	UCLi026-A
Synonyms	UCL-NG-ADCY5-001
Accession	CVCL_E6MB
Resource Identification Initiative	To cite this cell line use: UCLi026-A (RRID:CVCL_E6MB)
Comments	From: University College London; London; United Kingdom. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:236; ADCY5; Simple; p.Arg418Gln (c.1253G>A); ClinVar=VCV000218354; Zygosity=Heterozygous (PubMed=39919432).
Disease	Dyskinesia with orofacial involvement, autosomal dominant (NCIt: C215052) Familial dyskinesia and facial myokymia (ORDO: Orphanet_324588)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	18Y
Category	Induced pluripotent stem cell
Publications	PubMed=39919432; DOI=10.1016/j.scr.2025.103669 Sharmin Alhaque, Dimitri Budinger, Barbara Garavaglia, Giovanna Zorzi, Serena Barral, Manju Ann Kurian; Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G>A; (p.Arg418Gln). Stem Cell Res. 84:103669-103669(2025)
Cell line databases/resources	hPSCreg; UCLi026-A
Biological sample resources	BioSamples; SAMEA116293327
Entry history
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1