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Cellosaurus UUIGPi003-A (CVCL_WT80)

[Text version]
Cell line name UUIGPi003-A
Synonyms VHL4-10
Accession CVCL_WT80
Resource Identification Initiative To cite this cell line use: UUIGPi003-A (RRID:CVCL_WT80)
Comments From: Department of Immunology, Genetics and Pathology, Uppsala University; Uppsala; Sweden.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12687; VHL; Simple; p.Phe76del (c.227_229delTCT); Zygosity=Heterozygous (PubMed=31176917).
Disease Von Hippel-Lindau syndrome (NCIt: C3105)
Von Hippel-Lindau disease (ORDO: Orphanet_892)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=31176917; DOI=10.1016/j.scr.2019.101474
Schuster J., Fatima A., Schwarz F., Klar J., Laan L., Dahl N.
Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations.
Stem Cell Res. 38:101474-101474(2019)

Cross-references
Cell line databases/resources hPSCreg; UUIGPi003-A
Encyclopedic resources Wikidata; Q98134409
Entry history
Entry creation05-Jul-2019
Last entry update29-Jun-2023
Version number8