ID   GM20034
AC   CVCL_9Y52
DR   CLO; CLO_0028357
DR   Coriell; GM20034
DR   Wikidata; Q54850789
RX   PubMed=25059784;
CC   Population: Caucasian; Dutch.
CC   Sequence variation: Mutation; HGNC; HGNC:6091; INSR; Simple; p.Leu260Pro (c.779T>C) (L233P); ClinVar=VCV000014689; Zygosity=Homozygous (Coriell=GM20034).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84676; Donohue syndrome
DI   ORDO; Orphanet_508; Leprechaunism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   0-3M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
//
RX   PubMed=25059784; DOI=10.2337/db14-0109; PMCID=PMC4238001;
RA   Iovino S., Burkart A.M., Kriauciunas K.M., Warren L., Hughes K.J.,
RA   Molla M., Lee Y.-K., Patti M.-E., Kahn C.R.;
RT   "Genetic insulin resistance is a potent regulator of gene expression
RT   and proliferation in human iPS cells.";
RL   Diabetes 63:4130-4142(2014).
//