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 Klug K., Breyer M., Klopocki E., Uceyler N. 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