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Cellosaurus GM28532 (CVCL_C0M7)

[Text version]
Cell line name GM28532
Accession CVCL_C0M7
Resource Identification Initiative To cite this cell line use: GM28532 (RRID:CVCL_C0M7)
Comments Population: African American and Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Ile256Asn (c.767T>A); ClinVar=VCV000187883; Zygosity=Heterozygous (Coriell=GM28532).
  • Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Trp583Ter (c.1748G>A); ClinVar=VCV000998376; Zygosity=Heterozygous (Coriell=GM28532).
Disease 5' 10' methylenetetrahydrofolate reductase deficiency (NCIt: C84524)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (ORDO: Orphanet_395)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y6M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28532
Encyclopedic resources Wikidata; Q112929621
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6