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Cellosaurus GM29051 (CVCL_D3AG)

[Text version]
Cell line name GM29051
Accession CVCL_D3AG
Resource Identification Initiative To cite this cell line use: GM29051 (RRID:CVCL_D3AG)
Comments Population: Caucasian.
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.Asp191_Trp192insTer (c.563_572dup) (p.Trp192Ter); ClinVar=VCV000001677; Zygosity=Heterozygous (Coriell=GM29051).
  • Mutation; HGNC; HGNC:6831; MANBA; Simple; p.Arg500His (c.1499G>A); ClinVar=VCV001515408; Zygosity=Heterozygous (Coriell=GM29051).
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 12Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM29051
Encyclopedic resources Wikidata; Q127380948
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3