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Cellosaurus UKWNLi006-A (CVCL_C0H3)

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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; 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
Publications

PubMed=36640471; DOI=10.1016/j.scr.2023.103025
Katharina Klug, Maximilian Breyer, Eva Klopocki, Nurcan Uceyler;
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-A
Biological sample resources BioSamples; SAMEA110695543
Encyclopedic resources Wikidata; Q112930513
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6