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Cellosaurus GM25343 (CVCL_BX27)

[Text version]
Cell line name GM25343
Accession CVCL_BX27
Resource Identification Initiative To cite this cell line use: GM25343 (RRID:CVCL_BX27)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1397; CACNA1S; Simple; p.Thr1354Ser (c.4060A>T); ClinVar=VCV000161208; Zygosity=Heterozygous (Coriell=GM25343).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gln208Ter (c.622C>T); ClinVar=VCV000221578; Zygosity=Heterozygous (Coriell=GM25343).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gly310Gly (c.930C>T); ClinVar=VCV000221583; Zygosity=Heterozygous (Coriell=GM25343).
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_BX23 ! GM25331
Sex of cell Female
Age at sampling 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25343
Encyclopedic resources Wikidata; Q54853881
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14