Cellosaurus cell line UKWNLi005-A (CVCL

Cross-references
Cell line name	UKWNLi005-A
Synonyms	GLA-S126G-iPSC; MB1/5 iPSC
Accession	CVCL_B5II
Resource Identification Initiative	To cite this cell line use: UKWNLi005-A (RRID:CVCL_B5II)
Comments	From: Department of Neurology, University of Wurzburg; Wurzburg; Germany. 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; 4296; GLA; Simple; p.Ser126Gly (c.376A>G); ClinVar=VCV000163547; Zygosity=Hemizygous (PubMed=35325818).
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	51Y
Category	Induced pluripotent stem cell
Publications	PubMed=35325818; DOI=10.1016/j.scr.2022.102747 Breyer M., Klein T., Klug K., Klopocki E., Uceyler N. Generation of the induced pluripotent stem cell line UKWNLi005-A derived from a patient with the GLA mutation c.376A > G of unknown pathogenicity in Fabry disease. Stem Cell Res. 61:102747-102747(2022)
Cell line databases/resources	hPSCreg; UKWNLi005-A
Encyclopedic resources	Wikidata; Q110433933
Entry history
Entry creation	16-Dec-2021
Last entry update	10-Sep-2024
Version number	6