Cellosaurus cell line CSSi001-A (CVCL

Cross-references
Cell line name	CSSi001-A
Synonyms	CSSi001-A (2850); 2850; Joub03cl2; Joub03 cl2; COR419
Accession	CVCL_VD29
Resource Identification Initiative	To cite this cell line use: CSSi001-A (RRID:CVCL_VD29)
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.His896Arg (c.2687A>G); ClinVar=VCV000217532; Zygosity=Homozygous (PubMed=29334628).
Disease	Joubert syndrome 3 (NCIt: C148259) Joubert syndrome with ocular defect (ORDO: Orphanet_220493)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	40Y
Category	Induced pluripotent stem cell
Publications	PubMed=29334628; DOI=10.1016/j.scr.2018.01.012 Jessica Diana Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi; Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert syndrome: CSSi001-A (2850). Stem Cell Res. 27:74-77(2018)
Cell line databases/resources	hPSCreg; CSSi001-A SKIP; SKIP002980
Biological sample resources	BioSamples; SAMEA104620766
Encyclopedic resources	Wikidata; Q54814679
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	11