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Cellosaurus GM18429 (CVCL_DA77)

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Cell line name GM18429
Accession CVCL_DA77
Resource Identification Initiative To cite this cell line use: GM18429 (RRID:CVCL_DA77)
Comments Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:14537; NPC2; Simple; c.82+2T>C (IVS1+2T>C); ClinVar=VCV000242903; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM18429).
Disease Niemann-Pick disease, type C2 (NCIt: C126865)
Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
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; GM18429
Cell line databases/resources CLO; CLO_0031147
Encyclopedic resources Wikidata; Q54849541
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13