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Cellosaurus GM24261 (CVCL_AZ21)

[Text version]
Cell line name GM24261
Accession CVCL_AZ21
Resource Identification Initiative To cite this cell line use: GM24261 (RRID:CVCL_AZ21)
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.Trp166Ter (c.498G>A); ClinVar=VCV000551094; Zygosity=Unspecified (Coriell=GM24261).
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Val1138Met (c.3412G>A); ClinVar=VCV000092952; Zygosity=Unspecified (Coriell=GM24261).
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_AZ17 ! GM24255
Sex of cell Female
Age at sampling 8Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM24261
Encyclopedic resources Wikidata; Q54853674
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12