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; 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 Altieri F., D'Anzi A., Martello F., Tardivo S., Spasari I., Ferrari D., Bernardini L., Lamorte G., Mazzoccoli G., Valente E.M., Vescovi A.L., Rosati J.D. 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	10-Sep-2024
Version number	9