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Cellosaurus GM20034 (CVCL_9Y52)

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Cell line name GM20034
Accession CVCL_9Y52
Resource Identification Initiative To cite this cell line use: GM20034 (RRID:CVCL_9Y52)
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.Leu260Pro (c.779T>C) (L233P); ClinVar=VCV000014689; Zygosity=Homozygous (Coriell=GM20034).
Disease Donohue syndrome (NCIt: C84676)
Leprechaunism (ORDO: Orphanet_508)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_WI73 (IR-M3)
Sex of cell Male
Age at sampling 0-3M
Category Finite cell line
Publications

PubMed=25059784; DOI=10.2337/db14-0109; PMCID=PMC4238001
Salvatore Iovino, Alison M. Burkart, Kristina M. Kriauciunas, Laura Warren, Katelyn J. Hughes, Michael Molla, Youn-Kyoung Lee, Mary-Elizabeth Patti, Carl Ronald Kahn;
Genetic insulin resistance is a potent regulator of gene expression and proliferation in human iPS cells.
Diabetes 63:4130-4142(2014)

Cross-references
Cell line collections (Providers) Coriell; GM20034
Cell line databases/resources CLO; CLO_0028357
Encyclopedic resources Wikidata; Q54850789
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number13