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Cellosaurus GM24230 (CVCL_AZ04)

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Cell line name GM24230
Accession CVCL_AZ04
Resource Identification Initiative To cite this cell line use: GM24230 (RRID:CVCL_AZ04)
Comments Population: Caucasian.
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.Leu12Arg (c.35T>G); Zygosity=Heterozygous (Coriell=GM24230).
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Gln2433Ter (c.7297C>T); ClinVar=VCV002152018; Zygosity=Heterozygous (Coriell=GM24230).
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_AZ14 ! GM24249
Sex of cell Female
Age at sampling 6Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM24230
Encyclopedic resources Wikidata; Q54853643
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number11