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Cellosaurus GM24219 (CVCL_AZ02)

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Cell line name GM24219
Accession CVCL_AZ02
Resource Identification Initiative To cite this cell line use: GM24219 (RRID:CVCL_AZ02)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Cys314Trpfs*3 (c.939_940delAT); ClinVar=VCV000477529; Zygosity=Unspecified (Coriell=GM24219).
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Arg1326Ter (c.3976C>T); ClinVar=VCV000092956; Zygosity=Unspecified (Coriell=GM24219).
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 Female
Age at sampling 9Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM24219
Encyclopedic resources Wikidata; Q54853636
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12