Cellosaurus cell line CSSi020-A (CVCL

Cross-references
Cell line name	CSSi020-A
Synonyms	CSSi020-A (14437); 14437; SMSdel1 cl Q
Accession	CVCL_E3U3
Resource Identification Initiative	To cite this cell line use: CSSi020-A (RRID:CVCL_E3U3)
Comments	From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Gene deletion; HGNC; HGNC:9834; RAI1; Zygosity=Heterozygous (PubMed=39260069).
Disease	Smith-Magenis syndrome (NCIt: C75469) Smith-Magenis syndrome (ORDO: Orphanet_819)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	17Y
Category	Induced pluripotent stem cell
Publications	PubMed=39260069; DOI=10.1016/j.scr.2024.103544 Angela Maria Giada Giovenale, Elisa Maria Turco, Martina Mazzoni, Ilaria Ferrone, Barbara Torres, Laura Bernardini, Edvige Vulcano, Daniela Ferrari, Roberta Onesimo, Stefano D'Arrigo, Giuseppe Zampino ...Show all 15 authors... , Maria Pennuto, Alessandro De Luca, Angelo Luigi Vescovi, Jessica Diana Rosati; Show fewer authors Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region. Stem Cell Res. 81:103544-103544(2024)
Cell line databases/resources	hPSCreg; CSSi020-A
Biological sample resources	BioSamples; SAMEA115788086
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1