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Cellosaurus GM20384 (CVCL_DA96)

[Text version]
Cell line name GM20384
Accession CVCL_DA96
Resource Identification Initiative To cite this cell line use: GM20384 (RRID:CVCL_DA96)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2074; CLN3; Simple; c.461-280_677+382del (1.02-kb del); ClinVar=VCV000003552; Zygosity=Heterozygous (Coriell=GM20384).
  • Mutation; HGNC; HGNC:2074; CLN3; Simple; c.1198-1G>T (IVS14-1G>T); ClinVar=VCV000056251; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM20384).
Disease Neuronal ceroid lipofuscinosis type 3 (NCIt: C61258)
Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 38Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20384
Cell line databases/resources CLO; CLO_0029553
Encyclopedic resources Wikidata; Q54850994
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number15