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Cellosaurus GM26598 (CVCL_RT66)

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Cell line name GM26598
Accession CVCL_RT66
Resource Identification Initiative To cite this cell line use: GM26598 (RRID:CVCL_RT66)
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.Ser116Ter (c.347C>G); ClinVar=VCV000221579; Zygosity=Heterozygous (Coriell=GM26598).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; c.881+5G>T (IVS5+5G>T); ClinVar=VCV000221584; Zygosity=Heterozygous (Coriell=GM26598).
Disease Congenital disorder of deglycosylation (NCIt: C126746)
Alacrimia-choreoathetosis-liver dysfunction syndrome (ORDO: Orphanet_404454)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EH31 ! GM25596
Sex of cell Male
Age at sampling 15Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26598
Encyclopedic resources Wikidata; Q54854116
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number12