Cellosaurus cell line WS4corr-B (CVCL

Cross-references
Cell line name	WS4corr-B
Accession	CVCL_A9K7
Resource Identification Initiative	To cite this cell line use: WS4corr-B (RRID:CVCL_A9K7)
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.Trp371Ter (c.1112G>A); ClinVar=VCV001709531; Zygosity=Heterozygous (PubMed=32321868). Mutation; HGNC; HGNC:12762; WFS1; Simple_corrected; p.Arg629Trp (c.1885C>T); ClinVar=VCV001071979; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32321868).
Disease	Wolfram syndrome (NCIt: C35133) Wolfram syndrome (ORDO: Orphanet_3463)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_A9K5 (WS4unedit)
Sex of cell	Female
Age at sampling	25Y
Category	Induced pluripotent stem cell
Publications	PubMed=32321868; DOI=10.1126/scitranslmed.aax9106; PMCID=PMC7233417 Kristina G. Maxwell, Punn Augsornworawat, Leonardo Velazco-Cruz, Michelle H. Kim, Rie Asada Kitamura, Nathaniel J. Hogrebe, Shuntaro Morikawa, Fumihiko Urano, Jeffrey R. Millman; 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; Q102115117
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	9