Cellosaurus logo
expasy logo

Cellosaurus GM20328 (CVCL_9Y55)

[Text version]
Cell line name GM20328
Accession CVCL_9Y55
Resource Identification Initiative To cite this cell line use: GM20328 (RRID:CVCL_9Y55)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6091; INSR; Simple; p.Asn308del (c.922_924del) (N281del); Zygosity=Heterozygous (Coriell=GM20328).
  • Mutation; HGNC; HGNC:6091; INSR; Unexplicit; IVS13+1G>A; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM20328).
Disease Donohue syndrome (NCIt: C84676)
Leprechaunism (ORDO: Orphanet_508)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20328
Cell line databases/resources CLO; CLO_0027877
Encyclopedic resources Wikidata; Q54850940
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number14