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Cellosaurus GM18436 (CVCL_W152)

[Text version]
Cell line name GM18436
Accession CVCL_W152
Resource Identification Initiative To cite this cell line use: GM18436 (RRID:CVCL_W152)
Comments Population: Caucasian; Canadian/Italian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Pro543Argfs*20 (c.1628delC) (p.Phe542fs); ClinVar=VCV000556403; Zygosity=Heterozygous (Coriell=GM18436).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Glu612Asp (c.1836A>C); ClinVar=VCV000555407; Zygosity=Heterozygous (Coriell=GM18436).
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 Male
Age at sampling 1Y
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; GM18436
Cell line databases/resources CLO; CLO_0031148
Encyclopedic resources Wikidata; Q54849542
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number15