Cellosaurus cell line UNIPVi004-A (CVCL

Cross-references
Cell line name	UNIPVi004-A
Synonyms	COR316; NG3157
Accession	CVCL_D0NE
Resource Identification Initiative	To cite this cell line use: UNIPVi004-A (RRID:CVCL_D0NE)
Comments	From: Units of Biology and Genetics, University of Pavia; Pavia; Italy. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:25801; CPLANE1; Simple; p.Gly48Glu (c.143G>A); ClinVar=VCV001447842; Zygosity=Heterozygous (PubMed=38100914). Mutation; HGNC; HGNC:25801; CPLANE1; Simple; p.Leu595Ter (c.1784T>G); ClinVar=VCV000217580; Zygosity=Heterozygous (PubMed=38100914).
Disease	Joubert syndrome 17 (NCIt: C175702) Joubert syndrome (ORDO: Orphanet_475)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	11Y
Category	Induced pluripotent stem cell
Publications	PubMed=38100914; DOI=10.1016/j.scr.2023.103267; PMCID=PMC10805004 Concetta Mazzotta, Valentina Serpieri, Andrea Orsi, Silvia Cavan, Elisabetta Rossi, Franco Stanzial, Enza Maria Valente; Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene. Stem Cell Res. 74:103267-103267(2024)
Cell line databases/resources	hPSCreg; UNIPVi004-A
Biological sample resources	BioSamples; SAMEA113552511
Encyclopedic resources	Wikidata; Q123033752
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4