Cellosaurus cell line WFS2_1#11 (CVCL

Cross-references
Cell line name	WFS2_1#11
Synonyms	HIPS WFS2_1#11
Accession	CVCL_A4FK
Resource Identification Initiative	To cite this cell line use: WFS2_1#11 (RRID:CVCL_A4FK)
Comments	Population: Caucasian; Italian. Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:24212; CISD2; Simple; c.103+1G>A; ClinVar=VCV000638297; Zygosity=Homozygous; Note=Splice donor mutation (PubMed=29239282).
Disease	Wolfram syndrome (NCIt: C35133) Wolfram syndrome (ORDO: Orphanet_3463)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_A5DN (WFS2_1)
Sex of cell	Female
Age at sampling	19Y
Category	Induced pluripotent stem cell
Publications	PubMed=29239282; DOI=10.1089/scd.2017.0158 Alberto La Spada, Aikaterini Ntai, Stefano Genovese, Maurizio Rondinelli, Pasquale De Blasio, Ida Biunno; Generation of human-induced pluripotent stem cells from Wolfram syndrome type 2 patients bearing the c.103 + 1G>A CISD2 mutation for disease modeling. Stem Cells Dev. 27:287-295(2018)
Encyclopedic resources	Wikidata; Q105511738
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	7