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Cellosaurus (CVCL_YZ66)

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Comments Omics: Variations; Array-based CGH.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:2979; DNMT3B; Simple; p.Glu806_Arg807insSerThrPro (c.2397-11G>A) (IVS22AS,G>A,-11) (744ins3); ClinVar=VCV000006741; Zygosity=Heterozygous; Note=De novo mutation (from parent cell line).
Disease Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (NCIt: C156430)
ICF syndrome (ORDO: Orphanet_2268)
Species of origin Chlorocebus sabaeus (Green monkey) (Simia sabaea) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_E130 (GM08747)
Sex of cell Female
Age at sampling 1Y5M
Category Induced pluripotent stem cell
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1