Cellosaurus cell line WS9unedit (CVCL

Cellosaurus WS9unedit (CVCL_A9K8)

Cross-references
Cell line name	WS9unedit
Synonyms	Wolf-2010-09; Wolf-2010-9
Accession	CVCL_A9K8
Resource Identification Initiative	To cite this cell line use: WS9unedit (RRID:CVCL_A9K8)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Ala126Thr (c.376G>A); ClinVar=VCV000372583; Zygosity=Heterozygous (PubMed=25422446; PubMed=32321868). Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Trp613Ter (c.1839G>A); ClinVar=VCV000349320; Zygosity=Heterozygous (PubMed=25422446; PubMed=32321868).
Disease	Wolfram syndrome (NCIt: C35133) Wolfram syndrome (ORDO: Orphanet_3463)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	16Y
Category	Induced pluripotent stem cell
Publications	PubMed=25422446; DOI=10.1073/pnas.1421055111; PMCID=PMC4267371 Lu S.-M., Kanekura K., Hara T., Mahadevan J., Spears L.D., Oslowski C.M., Martinez R., Yamazaki-Inoue M., Toyoda M., Neilson A., Blanner P., Brown C.M., Semenkovich C.F., Marshall B.A., Hershey T., Umezawa A., Greer P.A., Urano F. A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome. Proc. Natl. Acad. Sci. U.S.A. 111:E5292-E5301(2014) PubMed=32321868; DOI=10.1126/scitranslmed.aax9106; PMCID=PMC7233417 Maxwell K.G., Augsornworawat P., Velazco-Cruz L., Kim M.H., Asada Kitamura R., Hogrebe N.J., Morikawa S., Urano F., Millman J.R. Gene-edited human stem cell-derived beta cells from a patient with monogenic diabetes reverse preexisting diabetes in mice. Sci. Transl. Med. 12:eaax9106.1-eaax9106.12(2020)
Encyclopedic resources	Wikidata; Q102115119
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	7