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Cellosaurus GM25864 (CVCL_VJ19)

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Cell line name GM25864
Synonyms GM25864*B
Accession CVCL_VJ19
Resource Identification Initiative To cite this cell line use: GM25864 (RRID:CVCL_VJ19)
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:7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (Coriell=GM25864).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Heterozygous (Coriell=GM25864).
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)
Hierarchy Parent: CVCL_7374 (GM03123)
Sex of cell Female
Age at sampling 9Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM25864
Encyclopedic resources Wikidata; Q93932121
Entry history
Entry creation07-Sep-2018
Last entry update19-Dec-2024
Version number11