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Cellosaurus GM23507 (CVCL_AY75)

[Text version]
Cell line name GM23507
Accession CVCL_AY75
Resource Identification Initiative To cite this cell line use: GM23507 (RRID:CVCL_AY75)
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.Cys967Ter (c.2901C>A); ClinVar=VCV000014301; Zygosity=Heterozygous (Coriell=GM23507).
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; c.6429+1G>T; ClinVar=VCV000556858; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM23507).
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; GM23507
Encyclopedic resources Wikidata; Q54853129
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12