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Cellosaurus GM28820 (CVCL_D6YX)

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Cell line name GM28820
Accession CVCL_D6YX
Resource Identification Initiative To cite this cell line use: GM28820 (RRID:CVCL_D6YX)
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:408; ALDH5A1; Simple; p.Trp204Ter (c.612G>A); ClinVar=VCV000001357; Zygosity=Heterozygous (Coriell=GM28820).
  • Mutation; HGNC; HGNC:408; ALDH5A1; Simple; p.Arg412Ter (c.1234C>T); ClinVar=VCV000001358; Zygosity=Heterozygous (Coriell=GM28820).
Disease Succinic semialdehyde dehydrogenase deficiency (NCIt: C206527)
Succinic semialdehyde dehydrogenase deficiency (ORDO: Orphanet_22)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 13Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28820
Entry history
Entry creation10-Sep-2024
Last entry update27-Nov-2025
Version number3