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Cellosaurus GM28741 (CVCL_D6Y7)

[Text version]
Cell line name GM28741
Accession CVCL_D6Y7
Resource Identification Initiative To cite this cell line use: GM28741 (RRID:CVCL_D6Y7)
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:23038; LMBRD1; Simple; p.Asn353Ilefs*18 (c.1056delG) (L352fsX18); ClinVar=VCV000225048; Zygosity=Heterozygous (Coriell=GM28741).
  • Mutation; HGNC; HGNC:7468; MTR; Simple; p.Pro1173Leu (c.3518C>T); ClinVar=VCV000014278; Zygosity=Heterozygous (Coriell=GM28741).
  • Mutation; HGNC; HGNC:7468; MTR; Unexplicit; Ex29-30del; Zygosity=Heterozygous (Coriell=GM28741).
Disease Arakawa syndrome II (NCIt: C99081)
Methylcobalamin deficiency type cblG (ORDO: Orphanet_2170)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28741
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2