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Cellosaurus UKWNLi001-A (CVCL_VN62)

[Text version]

Cell line name UKWNLi001-A
Synonyms FD-W236C-iPSC
Accession CVCL_VN62
Resource Identification Initiative To cite this cell line use: UKWNLi001-A (RRID:CVCL_VN62)
Comments From: Department of Neurology, University of Wurzburg; Wurzburg; Germany.
Population: Caucasian.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 4296; GLA; Simple; p.Trp236Cys (c.708G>C); Zygosity=Heterozygous (PubMed=30130681).
Disease Fabry disease (NCIt: C84701)
Fabry disease (ORDO: Orphanet_324)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=30130681; DOI=10.1016/j.scr.2018.08.009
Klein T., Gunther K., Kwok C.K., Edenhofer F., Uceyler N.
Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708G>C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene.
Stem Cell Res. 31:222-226(2018)

Cross-references
Cell line databases/resources hPSCreg; UKWNLi001-A
Other Wikidata; Q98134000
Entry history
Entry creation07-Sep-2018
Last entry update20-May-2021
Version number5