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Cellosaurus GM14553 (CVCL_FA40)

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Cell line name GM14553
Accession CVCL_FA40
Resource Identification Initiative To cite this cell line use: GM14553 (RRID:CVCL_FA40)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:3356; ENPP1; Simple; p.Tyr312Ter (c.936T>G); Zygosity=Heterozygous (Coriell=GM14553).
  • Mutation; HGNC; HGNC:3356; ENPP1; Simple; p.Asn792Ser (c.2375A>G); Zygosity=Heterozygous (Coriell=GM14553).
Disease Generalized arterial calcification of infancy 1 (NCIt: C128805)
Generalized arterial calcification of infancy (ORDO: Orphanet_51608)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1W
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM14553
Cell line databases/resources CLO; CLO_0031591
Encyclopedic resources Wikidata; Q54847303
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12