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Cellosaurus GM20387 (CVCL_DA98)

[Text version]
Cell line name GM20387
Accession CVCL_DA98
Resource Identification Initiative To cite this cell line use: GM20387 (RRID:CVCL_DA98)
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; c.509-1G>C (IVS5-1G>C); ClinVar=VCV000002644; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM20387).
  • Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Arg208Ter (c.622C>T); ClinVar=VCV000002643; Zygosity=Heterozygous (Coriell=GM20387).
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 18Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20387
Cell line databases/resources CLO; CLO_0029548
Encyclopedic resources Wikidata; Q54850996
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14