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Cellosaurus GM20380 (CVCL_DA92)

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Cell line name GM20380
Accession CVCL_DA92
Resource Identification Initiative To cite this cell line use: GM20380 (RRID:CVCL_DA92)
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.Arg151Ter (c.451C>T); ClinVar=VCV000008904; Zygosity=Heterozygous (Coriell=GM20380).
  • Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Val181Met (c.541G>A); ClinVar=VCV000188857; Zygosity=Heterozygous (Coriell=GM20380).
Disease Neuronal ceroid lipofuscinosis type 1 (NCIt: C85861)
CLN1 disease (ORDO: Orphanet_228329)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 16Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20380
Cell line databases/resources CLO; CLO_0029557
Encyclopedic resources Wikidata; Q54850990
Entry history
Entry creation13-Jul-2016
Last entry update31-Mar-2026
Version number14