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Cellosaurus GM28726 (CVCL_D6Y6)

[Text version]
Cell line name GM28726
Accession CVCL_D6Y6
Resource Identification Initiative To cite this cell line use: GM28726 (RRID:CVCL_D6Y6)
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:1550; CBS; Simple; p.Arg121Cys (c.361C>T); ClinVar=VCV000212842; Zygosity=Heterozygous (Coriell=GM28726).
  • Mutation; HGNC; HGNC:1550; CBS; Simple; p.Asn149Glufs*39 (c.444dup); ClinVar=VCV001456891; Zygosity=Heterozygous (Coriell=GM28726).
Disease Homocystinuria (NCIt: C84765)
Classic homocystinuria (ORDO: Orphanet_394)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28726
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2