ID   Wolf-2010-5
AC   CVCL_A9L8
DR   Wikidata; Q102115107
RX   PubMed=25422446;
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple; p.His313Tyr (c.937C>T); ClinVar=VCV000290817; Zygosity=Heterozygous (PubMed=25422446).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C35133; Wolfram syndrome
DI   ORDO; Orphanet_3463; Wolfram syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=25422446; DOI=10.1073/pnas.1421055111; PMCID=PMC4267371;
RA   Lu S.-M., Kanekura K., Hara T., Mahadevan J., Spears L.D., Oslowski C.M.,
RA   Martinez R., Yamazaki-Inoue M., Toyoda M., Neilson A., Blanner P.,
RA   Brown C.M., Semenkovich C.F., Marshall B.A., Hershey T., Umezawa A.,
RA   Greer P.A., Urano F.;
RT   "A calcium-dependent protease as a potential therapeutic target for
RT   Wolfram syndrome.";
RL   Proc. Natl. Acad. Sci. U.S.A. 111:E5292-E5301(2014).
//