ID   HEL72.1
AC   CVCL_UL33
DR   Wikidata; Q94096150
RX   PubMed=28402852;
CC   From: University of Helsinki; Helsinki; Finland.
CC   Population: Caucasian; Finnish.
CC   Sequence variation: Mutation; HGNC; HGNC:11364; STAT3; Simple; p.Lys392Arg (c.1175A>G); ClinVar=VCV000144030; Zygosity=Heterozygous (PubMed=28402852).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2985; Diabetes mellitus
DI   NCIt; C157123; Infantile-onset multisystem autoimmune disease 1
DI   ORDO; Orphanet_438159; STAT3-related early-onset multisystem autoimmune disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UL34 ! HEL72A
OI   CVCL_UL35 ! HEL72D
SX   Female
AG   Children
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 19-12-24; Version: 9
//
RX   PubMed=28402852; DOI=10.1016/j.celrep.2017.03.055;
RA   Saarimaki-Vire J., Balboa D., Russell M.A., Saarikettu J.,
RA   Kinnunen M., Keskitalo S., Malhi A., Valensisi C., Andrus C.,
RA   Eurola S., Grym H., Ustinov J., Wartiovaara K., Hawkins R.D.,
RA   Silvennoinen O., Varjosalo M., Morgan N.G., Otonkoski T.;
RT   "An activating STAT3 mutation causes neonatal diabetes through
RT   premature induction of pancreatic differentiation.";
RL   Cell Rep. 19:281-294(2017).
//