Cellosaurus cell line CSSi007-A (CVCL

Cross-references
Cell line name	CSSi007-A
Synonyms	CSSi007-A (4383); 4383; Joub07 cl1; COR11-NG708
Accession	CVCL_WK21
Resource Identification Initiative	To cite this cell line use: CSSi007-A (RRID:CVCL_WK21)
Comments	From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy. Population: Caucasian; Italian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:21575; AHI1; Simple; p.Arg723Gln (c.2168G>A); ClinVar=VCV000002015; Zygosity=Homozygous (PubMed=31202121).
Disease	Joubert syndrome 7 (NCIt: C159653) Joubert syndrome with renal defect (ORDO: Orphanet_220497)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	27Y
Category	Induced pluripotent stem cell
Publications	PubMed=31202121; DOI=10.1016/j.scr.2019.101480; PMCID=PMC6617992 Filomena Altieri, Angela D'Anzi, Francesco Martello, Silvia Tardivo, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Gianluigi Mazzoccoli, Enza Maria Valente, Angelo Luigi Vescovi, Jessica Diana Rosati; Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert syndrome. Stem Cell Res. 38:101480-101480(2019)
Cell line databases/resources	hPSCreg; CSSi007-A
Biological sample resources	BioSamples; SAMEA5359104
Encyclopedic resources	Wikidata; Q93459733
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	10