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Cellosaurus GM18402 (CVCL_DA68)

[Text version]
Cell line name GM18402
Accession CVCL_DA68
Resource Identification Initiative To cite this cell line use: GM18402 (RRID:CVCL_DA68)
Comments Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Asp700Asn (c.2098G>A); Zygosity=Heterozygous (Coriell=GM18402).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Phe1221Serfs*21 (c.3662delT); ClinVar=VCV000002977; Zygosity=Heterozygous (Coriell=GM18402).
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 Children
Category Finite cell line
Publications

PubMed=12955717; DOI=10.1002/humu.10255
Park W.D., O'Brien J.F., Lundquist P.A., Kraft D.L., Vockley C.W., Karnes P.S., Patterson M.C., Snow K.
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; GM18402
Cell line databases/resources CLO; CLO_0031084
Encyclopedic resources Wikidata; Q54849532
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12