ID   GM05241
AC   CVCL_9W99
SY   Minn-1; Minn 1; Minn1
DR   CLO; CLO_0025236
DR   Coriell; GM05241
DR   Wikidata; Q54838941
RX   CelloPub=CLPUB00447;
RX   PubMed=3049675;
RX   PubMed=25059784;
RX   PubMed=26831110;
CC   Sequence variation: Mutation; HGNC; 6091; INSR; Simple; p.Arg924Ter (c.2770C>T) (R897*); ClinVar=VCV000014686; Zygosity=Heterozygous (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)
SX   Female
AG   1M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 12
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=3049675; DOI=10.1172/JCI113739;
RA   Reddy S.S.-K., Lauris V., Kahn C.R.;
RT   "Insulin receptor function in fibroblasts from patients with
RT   leprechaunism. Differential alterations in binding,
RT   autophosphorylation, kinase activity, and receptor-mediated
RT   internalization.";
RL   J. Clin. Invest. 82:1359-1365(1988).
//
RX   PubMed=25059784; DOI=10.2337/db14-0109;
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;
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).
//