ID   WS13unedit
AC   CVCL_A9K9
SY   Wolf-2010-13
DR   Wikidata; Q102115114
RX   PubMed=25422446;
RX   PubMed=32321868;
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Leu200Argfs*87 (c.599delT); ClinVar=VCV002203514; Zygosity=Heterozygous (PubMed=25422446; PubMed=32321868).
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Glu752Ter (c.2254G>T); ClinVar=VCV000215399; Zygosity=Heterozygous (PubMed=25422446; PubMed=32321868).
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   7Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
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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).
//
RX   PubMed=32321868; DOI=10.1126/scitranslmed.aax9106; PMCID=PMC7233417;
RA   Maxwell K.G., Augsornworawat P., Velazco-Cruz L., Kim M.H.,
RA   Asada Kitamura R., Hogrebe N.J., Morikawa S., Urano F., Millman J.R.;
RT   "Gene-edited human stem cell-derived beta cells from a patient with
RT   monogenic diabetes reverse preexisting diabetes in mice.";
RL   Sci. Transl. Med. 12:eaax9106.1-eaax9106.12(2020).
//