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Cellosaurus GM28234 (CVCL_B0IE)

[Text version]
Cell line name GM28234
Accession CVCL_B0IE
Resource Identification Initiative To cite this cell line use: GM28234 (RRID:CVCL_B0IE)
Comments Population: Jewish; Syrian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Arg468Ter (c.1402C>T); ClinVar=VCV000565700; Zygosity=Homozygous (Coriell=GM28234).
  • Mutation; HGNC; HGNC:2212; COL6A2; Simple; p.Arg625Thr (c.1874G>C); Zygosity=Heterozygous (Coriell=GM28234).
Disease Ullrich congenital muscular dystrophy (NCIt: C123438)
Congenital muscular dystrophy, Ullrich type (ORDO: Orphanet_75840)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28234
Encyclopedic resources Wikidata; Q108820319
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number7