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Cellosaurus GM16080 (CVCL_DA35)

[Text version]
Cell line name GM16080
Accession CVCL_DA35
Resource Identification Initiative To cite this cell line use: GM16080 (RRID:CVCL_DA35)
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.Thr75Pro (c.223A>C); ClinVar=VCV000008900; Zygosity=Heterozygous (Coriell=GM16080).
  • Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Arg151Ter (c.451C>T); ClinVar=VCV000008904; Zygosity=Heterozygous (Coriell=GM16080).
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 Male
Age at sampling 17Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM16080
Cell line databases/resources CLO; CLO_0018757
Encyclopedic resources Wikidata; Q54848310
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14