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Cellosaurus GM24249 (CVCL_AZ14)

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Cell line name GM24249
Accession CVCL_AZ14
Resource Identification Initiative To cite this cell line use: GM24249 (RRID:CVCL_AZ14)
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:6482; LAMA2; Simple; p.Leu12Arg (c.35T>G); Zygosity=Heterozygous (Coriell=GM24249).
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Gln2433Ter (c.7297C>T); ClinVar=VCV002152018; Zygosity=Heterozygous (Coriell=GM24249).
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)
Originate from same individual CVCL_AZ04 ! GM24230
Sex of cell Female
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM24249
Encyclopedic resources Wikidata; Q54853661
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11