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Cellosaurus GM27381 (CVCL_XC50)

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Cell line name GM27381
Synonyms GM27381*B
Accession CVCL_XC50
Resource Identification Initiative To cite this cell line use: GM27381 (RRID:CVCL_XC50)
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=GM27381).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gln208Ter (c.622C>T); ClinVar=VCV000221578; Zygosity=Heterozygous (Coriell=GM27381).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gly310Gly (c.930C>T); ClinVar=VCV000221583; Zygosity=Heterozygous (Coriell=GM27381).
Disease Congenital disorder of deglycosylation (NCIt: C126746)
Alacrimia-choreoathetosis-liver dysfunction syndrome (ORDO: Orphanet_404454)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_BX28 (GM25344)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27381
Encyclopedic resources Wikidata; Q93933196
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number12