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Cellosaurus GM26595 (CVCL_RT81)

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Cell line name GM26595
Accession CVCL_RT81
Resource Identification Initiative To cite this cell line use: GM26595 (RRID:CVCL_RT81)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3157; EDA; Simple; p.Arg69Leu (c.206G>T); ClinVar=VCV000011032; Zygosity=Hemizygous (Coriell=GM26595).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Trp535Ter (c.1604G>A); ClinVar=VCV000221577; Zygosity=Heterozygous (Coriell=GM26595).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Ser636_Leu637insTer (c.1910delT) (p.Leu637Ter); ClinVar=VCV000221582; Zygosity=Heterozygous (Coriell=GM26595).
  • Mutation; HGNC; HGNC:9967; RET; Simple; p.Arg813Gln (c.2438G>A); ClinVar=VCV000643114; Zygosity=Heterozygous (Coriell=GM26595).
  • Mutation; HGNC; HGNC:10891; SIX5; Simple; p.Thr552Met (c.1655C>T); ClinVar=VCV000008601; Zygosity=Heterozygous (Coriell=GM26595).
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_RT82 ! GM26596
Sex of cell Male
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26595
Encyclopedic resources Wikidata; Q54854113
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number12