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Cellosaurus GM27939 (CVCL_C7L6)

[Text version]
Cell line name GM27939
Synonyms GM27939*B; CIMRi004-A
Accession CVCL_C7L6
Resource Identification Initiative To cite this cell line use: GM27939 (RRID:CVCL_C7L6)
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; 19743; POMT2; Simple; p.Gly353Ser (c.1057G>A); ClinVar=VCV000003231; Zygosity=Homozygous (Coriell=GM27939).
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 Parent: CVCL_AZ52 (GM24374)
Sex of cell Female
Age at sampling 5Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27939
Cell line databases/resources hPSCreg; CIMRi004-A
Biological sample resources BioSamples; SAMEA112941191
Encyclopedic resources Wikidata; Q117704350
Entry history
Entry creation21-Mar-2023
Last entry update30-Jan-2024
Version number4