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Cellosaurus UKWNLi006-B (CVCL_C6TA)

[Text version]
Cell line name UKWNLi006-B
Synonyms FD1089/21
Accession CVCL_C6TA
Resource Identification Initiative To cite this cell line use: UKWNLi006-B (RRID:CVCL_C6TA)
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_C0H3 ! UKWNLi006-A
Sex of cell Male
Age at sampling 36Y
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)

Cross-references
Cell line databases/resources hPSCreg; UKWNLi006-B
Biological sample resources BioSamples; SAMEA112262710
Encyclopedic resources Wikidata; Q117704933
Entry history
Entry creation21-Mar-2023
Last entry update05-Oct-2023
Version number3