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Cellosaurus HyCyte hCMEC/D3 hRNF213_p.R4810K_c.12429G>A (CVCL_E2Q2)

[Text version]
Cell line name HyCyte hCMEC/D3 hRNF213_p.R4810K_c.12429G>A
Synonyms hRNF213_p.R4810K_c.14429G>A hCMEC/D3
Accession CVCL_E2Q2
Resource Identification Initiative To cite this cell line use: HyCyte hCMEC/D3 hRNF213_p.R4810K_c.12429G>A (RRID:CVCL_E2Q2)
Comments Doubling time: 48-72 hours (Hysigen=CGKO-M2169).
Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
Genetic integration: Method=Transduction; Gene=UniProtKB; P03070; SV40 large T antigen.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Brain, temporal lobe, blood microvessel; UBERON=UBERON_0001871+UBERON_8410081.
Cell type: Endothelial cell; CL=CL_0000115.
Sequence variations
  • Mutation; HGNC; HGNC:14539; RNF213; Simple_edited; p.Arg4810Lys (c.14429G>A); ClinVar=VCV000039700; Zygosity=Homozygous; Note=By CRISPR/Cas9 (Hysigen=CGMU-M2169).
Disease Moyamoya disease 2 (NCIt: C183312)
Moyamoya disease (ORDO: Orphanet_2573)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_U985 (hCMEC/D3)
Sex of cell Female
Age at sampling Adult
Category Transformed cell line
Cross-references
Cell line collections (Providers) Hysigen; CGMU-M2169
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2