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Cellosaurus GM20032 (CVCL_9Y50)

[Text version]
Cell line name GM20032
Accession CVCL_9Y50
Resource Identification Initiative To cite this cell line use: GM20032 (RRID:CVCL_9Y50)
Comments Population: Caucasian; Dutch.
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.Leu120Gln (c.359T>A) (L93Q); Zygosity=Heterozygous (Coriell=GM20032).
  • Mutation; HGNC; HGNC:6091; INSR; Simple; p.Tyr1149Ter (c.3447C>A) (Y1122*); Zygosity=Heterozygous (Coriell=GM20032).
Disease Donohue syndrome (NCIt: C84676)
Leprechaunism (ORDO: Orphanet_508)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 0-3M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20032
Cell line databases/resources CLO; CLO_0028355
Encyclopedic resources Wikidata; Q54850787
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13