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Cellosaurus GM13204 (CVCL_U401)

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Cell line name GM13204
Accession CVCL_U401
Resource Identification Initiative To cite this cell line use: GM13204 (RRID:CVCL_U401)
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=GM13204).
  • Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (Coriell=GM13204).
Disease Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C0MD (GM28259)
Sex of cell Female
Age at sampling 45Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM13204 - Discontinued
Cell line databases/resources CLO; CLO_0013206
Encyclopedic resources Wikidata; Q54846380
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number18