Cellosaurus logo
expasy logo

Cellosaurus GM28364 (CVCL_C0LR)

[Text version]
Cell line name GM28364
Accession CVCL_C0LR
Resource Identification Initiative To cite this cell line use: GM28364 (RRID:CVCL_C0LR)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Arg1666Pro (c.4997G>C); ClinVar=VCV000638582; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28364).
  • Mutation; HGNC; HGNC:6831; MANBA; Simple; p.Asn578Ilefs*47 (c.1733delT); dbSNP=rs1404226085; Zygosity=Heterozygous (Coriell=GM28364).
Disease Developmental and epileptic encephalopathy 42 (NCIt: C188142)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28364
Encyclopedic resources Wikidata; Q112929603
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6