Cellosaurus logo
expasy logo

Cellosaurus GM16082 (CVCL_DA37)

[Text version]
Cell line name GM16082
Accession CVCL_DA37
Resource Identification Initiative To cite this cell line use: GM16082 (RRID:CVCL_DA37)
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.Gln177Glu (c.529C>G); ClinVar=VCV000056198; Zygosity=Heterozygous (Coriell=GM16082).
  • Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Trp296Ter (c.888G>A); ClinVar=VCV000056219; Zygosity=Heterozygous (Coriell=GM16082).
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 12Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM16082
Cell line databases/resources CLO; CLO_0018753
Encyclopedic resources Wikidata; Q54848312
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14