ID   UCLi026-A
AC   CVCL_E6MB
SY   UCL-NG-ADCY5-001
DR   BioSamples; SAMEA116293327
DR   hPSCreg; UCLi026-A
RX   PubMed=39919432;
CC   From: University College London; London; United Kingdom.
CC   Sequence variation: Mutation; HGNC; HGNC:236; ADCY5; Simple; p.Arg418Gln (c.1253G>A); ClinVar=VCV000218354; Zygosity=Heterozygous (PubMed=39919432).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C215052; Dyskinesia with orofacial involvement, autosomal dominant
DI   ORDO; Orphanet_324588; Familial dyskinesia and facial myokymia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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RX   PubMed=39919432; DOI=10.1016/j.scr.2025.103669;
RA   Alhaque S., Budinger D., Garavaglia B., Zorzi G., Barral S., Kurian M.A.;
RT   "Generation of an induced pluripotent stem cell line (UCLi026-A) from
RT   a patient with ADCY5-related disease carrying the heterozygous
RT   variant c.1253G>A; (p.Arg418Gln).";
RL   Stem Cell Res. 84:103669-103669(2025).
//