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 Giovenale A.M.G., Turco E.M., Mazzoni M., Ferrone I., Torres B., Bernardini L., Vulcano E., Ferrari D., Onesimo R., D'Arrigo S., Zampino G., Pennuto M., De Luca A., Vescovi A.L., Rosati J.D. 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