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Cellosaurus GM23670 (CVCL_AY80)

[Text version]
Cell line name GM23670
Accession CVCL_AY80
Resource Identification Initiative To cite this cell line use: GM23670 (RRID:CVCL_AY80)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Asp2498Ilefs*49 (c.7491delA); Zygosity=Heterozygous (Coriell=GM23670).
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; c.8244+3_8244+6delAAGT (c.8244+3_+6delAAGT); ClinVar=VCV000447695; Zygosity=Heterozygous (Coriell=GM23670).
Disease Merosin-deficient congenital muscular dystrophy type 1A (NCIt: C118783)
Laminin subunit alpha 2-related congenital muscular dystrophy (ORDO: Orphanet_258)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 15Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23670
Encyclopedic resources Wikidata; Q54853213
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11