Cellosaurus cell line WS13corr (CVCL

Cross-references
Cell line name	WS13corr
Accession	CVCL_A9L0
Resource Identification Initiative	To cite this cell line use: WS13corr (RRID:CVCL_A9L0)
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_corrected; p.Leu200Argfs*87 (c.599delT); ClinVar=VCV002203514; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32321868). Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Glu752Ter (c.2254G>T); ClinVar=VCV000215399; Zygosity=Heterozygous (PubMed=32321868).
Disease	Wolfram syndrome (NCIt: C35133) Wolfram syndrome (ORDO: Orphanet_3463)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_A9K9 (WS13unedit)
Sex of cell	Female
Age at sampling	7Y
Category	Induced pluripotent stem cell
Publications	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; Q102115113
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	8