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Cellosaurus (CVCL_E8IC)

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Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4298; GLB1; Simple; p.Trp161Gly (c.481T>G); ClinVar=VCV000092910; Zygosity=Heterozygous (hPSCreg=CHOCi005-A).
Disease GM1 gangliosidosis (NCIt: C84739)
GM1 gangliosidosis (ORDO: Orphanet_354)
Species of origin Cricetulus griseus (Chinese hamster) (Cricetulus barabensis griseus) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W024 (GM03589)
Sex of cell Female
Age at sampling 7M
Category Induced pluripotent stem cell
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4