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Cellosaurus GM29052 (CVCL_D6WG)

[Text version]
Cell line name GM29052
Accession CVCL_D6WG
Resource Identification Initiative To cite this cell line use: GM29052 (RRID:CVCL_D6WG)
Comments Population: Caucasian; Italian and Mexican.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6831; MANBA; Simple; p.Arg182Gly (c.545G>A); Zygosity=Homozygous (Coriell=GM29052).
Disease Beta-mannosidosis (NCIt: C84596)
Beta-mannosidosis (ORDO: Orphanet_118)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM29052
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2