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Cellosaurus GM28259 (CVCL_C0MD)

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Cell line name GM28259
Synonyms GM28259*B
Accession CVCL_C0MD
Resource Identification Initiative To cite this cell line use: GM28259 (RRID:CVCL_C0MD)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Gly269Ser (c.805G>A); ClinVar=VCV000003898; Zygosity=Heterozygous (Coriell=GM28259).
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM28259).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_U401 (GM13204)
Sex of cell Female
Age at sampling 45Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28259
Encyclopedic resources Wikidata; Q112929595
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6