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Cellosaurus GM28746 (CVCL_D6YA)

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Cell line name GM28746
Accession CVCL_D6YA
Resource Identification Initiative To cite this cell line use: GM28746 (RRID:CVCL_D6YA)
Comments Population: Latino or Hispanic.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:986; BCKDHA; Simple; p.Arg339Gln (c.1196G>A); Zygosity=Heterozygous (Coriell=GM28746).
  • Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000203855; Zygosity=Heterozygous (Coriell=GM28746).
  • Mutation; HGNC; HGNC:7526; MMUT; Simple; p.Ala324Thr (c.970G>A); ClinVar=VCV000550893; Zygosity=Heterozygous (Coriell=GM28746).
Disease Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (NCIt: C148366)
Vitamin B12-unresponsive methylmalonic acidemia (ORDO: Orphanet_27)
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; GM28746
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2