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Cellosaurus GM23327 (CVCL_AY69)

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Cell line name GM23327
Accession CVCL_AY69
Resource Identification Initiative To cite this cell line use: GM23327 (RRID:CVCL_AY69)
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.Met1Thr (c.2T>C); ClinVar=VCV000477459; Zygosity=Heterozygous (Coriell=GM23327).
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Gly16Alafs*29 (c.47delG); Zygosity=Heterozygous (Coriell=GM23327).
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 Children
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23327
Encyclopedic resources Wikidata; Q54853006
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number13