Cellosaurus logo
expasy logo

Cellosaurus GM20385 (CVCL_DA97)

[Text][XML][JSON]
Cell line name GM20385
Accession CVCL_DA97
Resource Identification Initiative To cite this cell line use: GM20385 (RRID:CVCL_DA97)
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>A (IVS5-1G>A); ClinVar=VCV000207574; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM20385).
  • Mutation; HGNC; HGNC:2073; TPP1; Simple; c.509-1G>C (IVS5-1G>C); ClinVar=VCV000002644; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM20385).
Disease Neuronal ceroid lipofuscinosis type 2 (NCIt: C85864)
CLN2 disease (ORDO: Orphanet_228349)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_VH45 (GM27177)
Sex of cell Female
Age at sampling 11Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM20385
Cell line databases/resources CLO; CLO_0029551
Encyclopedic resources Wikidata; Q54850995
Entry history
Entry creation13-Jul-2016
Last entry update31-Mar-2026
Version number16