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Cellosaurus GM16085 (CVCL_DA40)

[Text version]
Cell line name GM16085
Accession CVCL_DA40
Resource Identification Initiative To cite this cell line use: GM16085 (RRID:CVCL_DA40)
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=Homozygous (Coriell=GM16085).
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 26Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM16085
Cell line databases/resources CLO; CLO_0018781
Encyclopedic resources Wikidata; Q54848315
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13