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Cellosaurus FD-1-iPSC (CVCL_C6TP)

[Text version]
Cell line name FD-1-iPSC
Accession CVCL_C6TP
Resource Identification Initiative To cite this cell line use: FD-1-iPSC (RRID:CVCL_C6TP)
Comments From: Korea Advanced Institute of Science and Technology; Daejeon; South Korea.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4296; GLA; Simple; p.Leu268fs*1 (c.803_806del); Zygosity=Hemizygous (PubMed=31981984).
Disease Fabry disease (NCIt: C84701)
Fabry disease (ORDO: Orphanet_324)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C6TR (FD-1-Cor)CVCL_C6TQ (FD-1-TSP-1-/-)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Publications

PubMed=31981984; DOI=10.1016/j.ebiom.2020.102633; PMCID=PMC6992938
Do H.-S., Park S.-W., Im I., Seo D., Yoo H.-W., Go H., Kim Y.H., Koh G.Y., Lee B.-H., Han Y.-M.
Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells.
EBioMedicine 52:102633.1-102633.15(2020)

Cross-references
Encyclopedic resources Wikidata; Q117704331
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3