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Cellosaurus KCL017 (CVCL_A250)

[Text version]
Cell line name KCL017
Synonyms KCL-017; VHL4; KCL017_VHL4; KCLe013-A
Accession CVCL_A250
Resource Identification Initiative To cite this cell line use: KCL017 (RRID:CVCL_A250)
Comments From: King's College London; London; United Kingdom.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-13-0217.
Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC10-34.
Donor information: Embryo is sibling to those giving rise to KCL015 (Cellosaurus=CVCL_A248) and KCL016 (Cellosaurus=CVCL_A249).
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; 12687; VHL; Simple; c.676+3A>T; Zygosity=Heterozygous (PubMed=27345980).
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 Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=27345980; DOI=10.1016/j.scr.2016.01.013; PMCID=PMC4823763
Hewitson H., Wood V., Kadeva N., Cornwell G., Codognotto S., Stephenson E.L., Ilic D.
Generation of KCL017 research grade human embryonic stem cell line carrying a mutation in VHL gene.
Stem Cell Res. 16:268-270(2016)

Cross-references
Cell line databases/resources hPSCreg; KCLe013-A
NIHhESC; NIHhESC-13-0217
SKIP; SKIP002361
Encyclopedic resources Wikidata; Q54899664
Entry history
Entry creation06-Jun-2012
Last entry update10-Sep-2024
Version number23