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Cellosaurus GM24374 (CVCL_AZ52)

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Cell line name GM24374
Accession CVCL_AZ52
Resource Identification Initiative To cite this cell line use: GM24374 (RRID:CVCL_AZ52)
Comments Population: Caucasian; German/Irish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:19743; POMT2; Simple; p.Gly353Ser (c.1057G>A); ClinVar=VCV000003231; Zygosity=Homozygous (Coriell=GM24374).
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2 (NCIt: C126690)
Congenital muscular dystrophy with intellectual disability (ORDO: Orphanet_370968)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C7L6 (GM27939)
Sex of cell Female
Age at sampling 5Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM24374
Encyclopedic resources Wikidata; Q54853742
Entry history
Entry creation02-May-2016
Last entry update19-Dec-2024
Version number12