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Cellosaurus (CVCL_DB17)

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Accession CVCL_DA71
Comments Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Thr1036Met (c.3107C>T); ClinVar=VCV000002958; Zygosity=Homozygous (Coriell=GM18414).
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_RM46 (NPC1-3#4)CVCL_RM47 (NPC1-3#47)
Sex of cell Female
Age at sampling Age unspecified
Category Finite cell line
Publications


Errol Clive Friedberg, Roger A. Schultz;
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids.
Hum. Mutat. 10:317-321(1997)

Cross-references
Cell line collections (Providers) Coriell; GM18414
Cell line databases/resources CLO; CLO_0031159
Encyclopedic resources Wikidata; Q54849535
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number11