ID   IR-M2
AC   CVCL_WI72
DR   SKIP; SKIP000913
DR   Wikidata; Q94323662
RX   PubMed=25059784;
RX   PubMed=26831110;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 6091; INSR; Simple; p.Ala2Gly (c.5C>G); ClinVar=VCV000193063; Zygosity=Homozygous (PubMed=25059784).
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)
HI   CVCL_9X16 ! GM10277
SX   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=25059784; DOI=10.2337/db14-0109; PMCID=PMC4238001;
RA   Iovino S., Burkart A.M., Kriauciunas K., 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).
//
RX   PubMed=26831110; DOI=10.1073/pnas.1525665113; PMCID=PMC4763759;
RA   Iovino S., Burkart A.M., Warren L., Patti M.-E., Kahn C.R.;
RT   "Myotubes derived from human-induced pluripotent stem cells mirror in
RT   vivo insulin resistance.";
RL   Proc. Natl. Acad. Sci. U.S.A. 113:1889-1894(2016).
//