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Cellosaurus GM23162 (CVCL_DB21)

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Cell line name GM23162
Accession CVCL_DB21
Resource Identification Initiative To cite this cell line use: GM23162 (RRID:CVCL_DB21)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Cys42Tyr (c.125G>A); Zygosity=Heterozygous (Coriell=GM23162).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Asp948Asn (c.2842G>A); ClinVar=VCV000552987; Zygosity=Heterozygous (Coriell=GM23162).
Disease Niemann-Pick disease, type C1 (NCIt: C126864)
Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23162
Encyclopedic resources Wikidata; Q54852914
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12