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Cellosaurus GM20377 (CVCL_DA89)

[Text version]
Cell line name GM20377
Accession CVCL_DA89
Resource Identification Initiative To cite this cell line use: GM20377 (RRID:CVCL_DA89)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Arg208Ter (c.622C>T); ClinVar=VCV000002643; Zygosity=Heterozygous (Coriell=GM20377).
  • Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Gly473Arg (c.1417G>A); ClinVar=VCV000068740; Zygosity=Heterozygous (Coriell=GM20377).
Disease Neuronal ceroid lipofuscinosis type 2 (NCIt: C85864)
Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20377
Cell line databases/resources CLO; CLO_0029544
Encyclopedic resources Wikidata; Q54850987
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13