Cellosaurus cell line UKWNLi007-A (CVCL

Cross-references
Cell line name	UKWNLi007-A
Synonyms	FD1210/1
Accession	CVCL_C0H4
Resource Identification Initiative	To cite this cell line use: UKWNLi007-A (RRID:CVCL_C0H4)
Comments	From: Department of Neurology, University of Wurzburg; Wurzburg; Germany. Population: Caucasian. Derived from site: In situ; Leg, skin, dermis; UBERON=UBERON_0001511+UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4296; GLA; Simple; p.Cys172Tyr (c.515G>A); ClinVar=VCV001323002; Zygosity=Hemizygous (PubMed=36640471).
Disease	Fabry disease (NCIt: C84701) Fabry disease (ORDO: Orphanet_324)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C6TB ! UKWNLi007-B
Sex of cell	Male
Age at sampling	34Y
Category	Induced pluripotent stem cell
Publications	PubMed=36640471; DOI=10.1016/j.scr.2023.103025 Katharina Klug, Maximilian Breyer, Eva Klopocki, Nurcan Uceyler; Generation of two induced pluripotent stem cell lines UKWNLi006 and UKWNLi007 derived from two patients with an active site GLA mutation leading to a pain and no pain phenotype in Fabry disease. Stem Cell Res. 67:103025-103025(2023)
Cell line databases/resources	hPSCreg; UKWNLi007-A
Biological sample resources	BioSamples; SAMEA112262705
Encyclopedic resources	Wikidata; Q112930514
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6