• Mutation; HGNC; HGNC:6091; INSR; Simple; p.Arg924Ter (c.2770C>T) (R897*); ClinVar=VCV000014686; Zygosity=Heterozygous (PubMed=25059784).
  

PubMed=3049675; DOI=10.1172/JCI113739; PMCID=PMC442692
Reddy S.S.-K., Lauris V., Kahn C.R.
Insulin receptor function in fibroblasts from patients with leprechaunism. Differential alterations in binding, autophosphorylation, kinase activity, and receptor-mediated internalization.
J. Clin. Invest. 82:1359-1365(1988)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=25059784; DOI=10.2337/db14-0109; PMCID=PMC4238001
Iovino S., Burkart A.M., Kriauciunas K.M., Warren L., Hughes K.J., Molla M., Lee Y.-K., Patti M.-E., Kahn C.R.
Genetic insulin resistance is a potent regulator of gene expression and proliferation in human iPS cells.
Diabetes 63:4130-4142(2014)

PubMed=26831110; DOI=10.1073/pnas.1525665113; PMCID=PMC4763759
Iovino S., Burkart A.M., Warren L., Patti M.-E., Kahn C.R.
Myotubes derived from human-induced pluripotent stem cells mirror in vivo insulin resistance.
Proc. Natl. Acad. Sci. U.S.A. 113:1889-1894(2016)