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Cellosaurus GM27289 (CVCL_YN38)

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Cell line name GM27289
Accession CVCL_YN38
Resource Identification Initiative To cite this cell line use: GM27289 (RRID:CVCL_YN38)
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:23089; SLC13A5; Simple; p.Gly219Arg (c.655G>A); ClinVar=VCV000140752; Zygosity=Heterozygous (Coriell=GM27289).
  • Mutation; HGNC; HGNC:23089; SLC13A5; Simple; p.Leu492Pro (c.1475T>C); ClinVar=VCV000375390; Zygosity=Heterozygous (Coriell=GM27289).
Disease Developmental and epileptic encephalopathy 25 (NCIt: C168597)
Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27289
Encyclopedic resources Wikidata; Q93933150
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number11