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Cellosaurus GM26596 (CVCL_RT82)

[Text version]
Cell line name GM26596
Accession CVCL_RT82
Resource Identification Initiative To cite this cell line use: GM26596 (RRID:CVCL_RT82)
Comments Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3157; EDA; Simple; p.Arg69Leu (c.206G>T); ClinVar=VCV000011032; Zygosity=Hemizygous (Coriell=GM26596).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Trp535Ter (c.1604G>A); ClinVar=VCV000221577; Zygosity=Heterozygous (Coriell=GM26596).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Ser636_Leu637insTer (c.1910delT) (p.Leu637Ter); ClinVar=VCV000221582; Zygosity=Heterozygous (Coriell=GM26596).
  • Mutation; HGNC; HGNC:9967; RET; Simple; p.Arg813Gln (c.2438G>A); ClinVar=VCV000643114; Zygosity=Heterozygous (Coriell=GM26596).
  • Mutation; HGNC; HGNC:10891; SIX5; Simple; p.Thr552Met (c.1655C>T); ClinVar=VCV000008601; Zygosity=Heterozygous (Coriell=GM26596).
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_RT81 ! GM26595
Sex of cell Male
Age at sampling 6Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26596
Encyclopedic resources Wikidata; Q54854114
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number13