ID   WS13corr
AC   CVCL_A9L0
DR   Wikidata; Q102115113
RX   PubMed=32321868;
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple_corrected; p.Leu200Argfs*87 (c.599delT); ClinVar=VCV002203514; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32321868).
CC   Sequence variation: Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Glu752Ter (c.2254G>T); ClinVar=VCV000215399; Zygosity=Heterozygous (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)
HI   CVCL_A9K9 ! WS13unedit
SX   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
//
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).
//