Cellosaurus cell line WFS2_2 (CVCL

Cross-references
Cell line name	WFS2_2
Accession	CVCL_A5DM
Resource Identification Initiative	To cite this cell line use: WFS2_2 (RRID:CVCL_A5DM)
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)
Sex of cell	Female
Age at sampling	22Y
Category	Finite cell line
Web pages	https://www.isenetbiobanking.com/wfs22
Publications	PubMed=29239282; DOI=10.1089/scd.2017.0158 La Spada A., Ntai A., Genovese S., Rondinelli M., De Blasio P., Biunno I. 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; Q107117442
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6