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Cellosaurus GM16109 (CVCL_DA44)

[Text version]
Cell line name GM16109
Accession CVCL_DA44
Resource Identification Initiative To cite this cell line use: GM16109 (RRID:CVCL_DA44)
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.Arg164Ter (c.490C>T) (p.Arg61Ter, c.181C>T); ClinVar=VCV000056197; Zygosity=Heterozygous (Coriell=GM16109).
  • Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Gln291Ter (c.871C>T); ClinVar=VCV000056217; Zygosity=Heterozygous (Coriell=GM16109).
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; GM16109
Cell line databases/resources CLO; CLO_0018841
Encyclopedic resources Wikidata; Q54848330
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number15