Cellosaurus cell line Wolf-2010-11 (CVCL

Cross-references
Cell line name	Wolf-2010-11
Accession	CVCL_A9L7
Resource Identification Initiative	To cite this cell line use: Wolf-2010-11 (RRID:CVCL_A9L7)
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). Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Trp613Ter (c.1839G>A); ClinVar=VCV000349320; Zygosity=Heterozygous (PubMed=25422446).
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	10Y
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)
Encyclopedic resources	Wikidata; Q102115106
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	7