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Cellosaurus GM28735 (CVCL_D3A0)

[Text version]
Cell line name GM28735
Accession CVCL_D3A0
Resource Identification Initiative To cite this cell line use: GM28735 (RRID:CVCL_D3A0)
Comments Population: Caucasian; English/Irish.
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.Gly307Ser (c.919G>A); ClinVar=VCV000000117; Zygosity=Homozygous (Coriell=GM28735).
Disease Homocystinuria (NCIt: C84765)
Classic homocystinuria (ORDO: Orphanet_394)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 36Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28735
Encyclopedic resources Wikidata; Q127380922
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3