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Cellosaurus GM18453 (CVCL_DA78)

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Cell line name GM18453
Accession CVCL_DA78
Resource Identification Initiative To cite this cell line use: GM18453 (RRID:CVCL_DA78)
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.Ile1061Thr (c.3182T>C); ClinVar=VCV000002967; Zygosity=Homozygous (Coriell=GM18453).
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 Children:
CVCL_A4DG (AKOSi006-A)CVCL_RM39 (NPC1-1#13)CVCL_RM40 (NPC1-1#4)
CVCL_UL04 (TRNDi001-A)CVCL_UL05 (TRNDi001-B)CVCL_UL06 (TRNDi001-C)
CVCL_UL07 (TRNDi001-D)
Sex of cell Male
Age at sampling Age unspecified
Category Finite cell line
Publications

PubMed=12955717; DOI=10.1002/humu.10255
Walter D. Park, John F. O'Brien, Patrick A. Lundquist, Daniel L. Kraft, Cate Walsh Vockley, Pamela S. Karnes, Marc C. Patterson, Karen Snow;
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Hum. Mutat. 22:313-325(2003)

Cross-references
Cell line collections (Providers) Coriell; GM18453
Cell line databases/resources CLO; CLO_0031137
Encyclopedic resources Wikidata; Q54849544
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12