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Cellosaurus GM29847 (CVCL_F1AE)

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Cell line name GM29847
Synonyms GM29847*B
Accession CVCL_F1AE
Resource Identification Initiative To cite this cell line use: GM29847 (RRID:CVCL_F1AE)
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=GM29847).
  • Mutation; HGNC; HGNC:2213; COL6A3; Simple; p.Arg625Thr (c.1874G>C); ClinVar=VCV000964423; Zygosity=Heterozygous (Coriell=GM29847).
Disease Ullrich congenital muscular dystrophy (NCIt: C123438)
Congenital muscular dystrophy, Ullrich type (ORDO: Orphanet_75840)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B0IE (GM28234)
Sex of cell Female
Age at sampling 2Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM29847
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1