ID   GM20327
AC   CVCL_9Y54
DR   CLO; CLO_0027869
DR   Coriell; GM20327
DR   Wikidata; Q54850939
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 (Coriell=GM20327).
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   2M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
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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).
//