Cellosaurus logo
expasy logo

Cellosaurus UKWNLi006-A (CVCL_C0H3)

[Text version]
Cell line name UKWNLi006-A
Synonyms GLA-D170N-iPSC; FD1089/20
Accession CVCL_C0H3
Resource Identification Initiative To cite this cell line use: UKWNLi006-A (RRID:CVCL_C0H3)
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; 4296; GLA; Simple; p.Asp170Asn (c.508G>A); 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_C6TA ! UKWNLi006-B
Sex of cell Male
Age at sampling 36Y
Category Induced pluripotent stem cell

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; UKWNLi006-A
Encyclopedic resources Wikidata; Q112930513
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4