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Cellosaurus GM25439 (CVCL_DB22)

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Cell line name GM25439
Accession CVCL_DB22
Resource Identification Initiative To cite this cell line use: GM25439 (RRID:CVCL_DB22)
Comments Population: Chinese.
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.Ser738Ter (c.2213C>A); ClinVar=VCV000242482; Zygosity=Heterozygous (Coriell=GM25439).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Pro1080Ilefs*18 (c.3234_3237dupATTT); ClinVar=VCV000242483; Zygosity=Heterozygous (Coriell=GM25439).
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 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25439
Encyclopedic resources Wikidata; Q54853965
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12