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Cellosaurus GM23311 (CVCL_F196)

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Cell line name GM23311
Accession CVCL_F196
Resource Identification Initiative To cite this cell line use: GM23311 (RRID:CVCL_F196)
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.Arg683Serfs*21 (c.2045_2046AG[2]) (c.2049_2050delAG); ClinVar=VCV000038340; Zygosity=Heterozygous (Coriell=GM23311).
  • Mutation; HGNC; HGNC:6482; LAMA2; Simple; p.Arg2578Ter (c.7732C>T); ClinVar=VCV000014296; Zygosity=Heterozygous (Coriell=GM23311).
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)
Hierarchy Children:
CVCL_F195 (GM23717)
Sex of cell Female
Age at sampling 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM23311
Encyclopedic resources Wikidata; Q54852989
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number15