Cellosaurus logo
expasy logo

Cellosaurus GM16108 (CVCL_DA43)

[Text version]
Cell line name GM16108
Accession CVCL_DA43
Resource Identification Initiative To cite this cell line use: GM16108 (RRID:CVCL_DA43)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Gly118Asp (c.353G>A); ClinVar=VCV000520610; Zygosity=Heterozygous (Coriell=GM16108).
  • Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Arg151Ter (c.451C>T); ClinVar=VCV000008904; Zygosity=Heterozygous (Coriell=GM16108).
Disease Neuronal ceroid lipofuscinosis type 1 (NCIt: C85861)
Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Children
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM16108
Cell line databases/resources CLO; CLO_0018845
Encyclopedic resources Wikidata; Q54848329
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number15