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Cellosaurus GM20031 (CVCL_9Y49)

[Text version]
Cell line name GM20031
Accession CVCL_9Y49
Resource Identification Initiative To cite this cell line use: GM20031 (RRID:CVCL_9Y49)
Comments Population: Caucasian; Scottish.
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.Asn458Asp (c.1372A>G) (N431D); ClinVar=VCV000014714; Zygosity=Homozygous (Coriell=GM20031).
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 0-3M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20031
Cell line databases/resources CLO; CLO_0028354
Encyclopedic resources Wikidata; Q54850786
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12