Cellosaurus logo
expasy logo

Cellosaurus GM18390 (CVCL_DA64)

[Text version]
Cell line name GM18390
Accession CVCL_DA64
Resource Identification Initiative To cite this cell line use: GM18390 (RRID:CVCL_DA64)
Comments Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Asp242His (c.724G>C); Zygosity=Heterozygous (Coriell=GM18390).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Ser940Leu (c.2819C>T); ClinVar=VCV000188716; Zygosity=Heterozygous (Coriell=GM18390).
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 Age unspecified
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; GM18390
Cell line databases/resources CLO; CLO_0031098
Encyclopedic resources Wikidata; Q54849523
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12