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Cellosaurus GM24463 (CVCL_AZ30)

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Cell line name GM24463
Accession CVCL_AZ30
Resource Identification Initiative To cite this cell line use: GM24463 (RRID:CVCL_AZ30)
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.Arg1400Ter (c.4198C>T); ClinVar=VCV000557566; Zygosity=Heterozygous (Coriell=GM24463).
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Arg2236Arg (c.6706A>C); ClinVar=VCV000256082; Zygosity=Heterozygous (Coriell=GM24463).
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 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24463
Encyclopedic resources Wikidata; Q54853760
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12