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Cellosaurus GM28545 (CVCL_C0M9)

[Text version]
Cell line name GM28545
Accession CVCL_C0M9
Resource Identification Initiative To cite this cell line use: GM28545 (RRID:CVCL_C0M9)
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.Val1392Met (c.4174G>A); ClinVar=VCV000195935; Zygosity=Heterozygous (Coriell=GM28545).
  • Mutation; HGNC; HGNC:7470; MT-RNR1; Simple; m.963C>T; Zygosity=Homoplasmic (Coriell=GM28545).
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; GM28545
Encyclopedic resources Wikidata; Q112929623
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6