Cellosaurus cell line UKJi003-A (CVCL

Cross-references
Cell line name	UKJi003-A
Synonyms	hiPSC-FD
Accession	CVCL_E7UR
Resource Identification Initiative	To cite this cell line use: UKJi003-A (RRID:CVCL_E7UR)
Comments	From: Klinik fur Innere Medizin I (KIM I), Universitatsklinikum Jena (UKJ); Jena; Germany. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4296; GLA; Simple; c.1000-10G>A (IVS6-10G>A); ClinVar=VCV000222110; Zygosity=Hemizygous (PubMed=39701018).
Disease	Fabry disease (NCIt: C84701) Fabry disease (ORDO: Orphanet_324)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	49Y
Category	Induced pluripotent stem cell
Publications	PubMed=39701018; DOI=10.1016/j.scr.2024.103620 Mohamed M. Bekhite, Sascha Hubner, Tom Kretzschmar, Claudia Backsch, Anja Weise, Elisabeth Klein, Juergen Bogoviku, Julian Georg Westphal, Paul Christian Schulze; Generation of a human induced pluripotent stem cell lines (UKJi003-A) from a patient with Fabry disease and healthy donor (UKJi004-A). Stem Cell Res. 82:103620-103620(2025)
Cell line databases/resources	hPSCreg; UKJi003-A
Biological sample resources	BioSamples; SAMEA115728248
Entry history
Entry creation	10-Apr-2025
Last entry update	10-Apr-2025
Version number	1