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Cellosaurus GM28475 (CVCL_C7MJ)

[Text version]
Cell line name GM28475
Accession CVCL_C7MJ
Resource Identification Initiative To cite this cell line use: GM28475 (RRID:CVCL_C7MJ)
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:9081; PLOD1; Simple; p.Gly159Valfs*68 (c.476delG); Zygosity=Homozygous (Coriell=GM28475).
Disease Ehlers-Danlos syndrome, type VI (NCIt: C125700)
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency (ORDO: Orphanet_1900)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28475
Encyclopedic resources Wikidata; Q117704392
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4