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Cellosaurus GM28392 (CVCL_C0M2)

[Text version]
Cell line name GM28392
Accession CVCL_C0M2
Resource Identification Initiative To cite this cell line use: GM28392 (RRID:CVCL_C0M2)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:886; ATRX; Simple; p.Arg2085Cys (c.6253C>T); ClinVar=VCV001180765; Zygosity=Hemizygous (Coriell=GM28392).
Disease Alpha thalassemia X-linked mental retardation syndrome (NCIt: C118631)
Alpha-thalassemia-X-linked intellectual disability syndrome (ORDO: Orphanet_847)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28392
Encyclopedic resources Wikidata; Q112929614
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6