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Cellosaurus GM26584 (CVCL_RT71)

[Text version]
Cell line name GM26584
Accession CVCL_RT71
Resource Identification Initiative To cite this cell line use: GM26584 (RRID:CVCL_RT71)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Homozygous (Coriell=GM26584).
Disease Congenital disorder of deglycosylation (NCIt: C126746)
Alacrimia-choreoathetosis-liver dysfunction syndrome (ORDO: Orphanet_404454)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 18Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26584
Encyclopedic resources Wikidata; Q54854103
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11