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 Rosati J.D., Altieri F., Tardivo S., Turco E.M., Goldoni M., Spasari I., Ferrari D., Bernardini L., Lamorte G., Valente E.M., Vescovi A.L. 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