ID   IR-M4
AC   CVCL_WI74
DR   SKIP; SKIP000915
DR   Wikidata; Q94323674
RX   PubMed=26831110;
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:6091; INSR; Simple; p.Glu151Ter (c.451G>T) (E124X); Zygosity=Homozygous (PubMed=26831110).
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_9Y54 ! GM20327
SX   Female
AG   2M
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 19-12-24; Version: 9
//
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).
//