Cellosaurus cell line UNIBSi016-A (CVCL

Cellosaurus UNIBSi016-A (CVCL_A0KQ)

Cross-references
Cell line name	UNIBSi016-A
Synonyms	JS_CG_C6
Accession	CVCL_A0KQ
Resource Identification Initiative	To cite this cell line use: UNIBSi016-A (RRID:CVCL_A0KQ)
Comments	From: University of Brescia; Brescia; Italy. Population: Caucasian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:29253; CC2D2A; Simple; p.Glu1000Val (c.2999A>T); ClinVar=VCV000217604; Zygosity=Heterozygous (PubMed=34182252). Mutation; HGNC; HGNC:29253; CC2D2A; Simple; p.Gly1213Alafs*7 (c.3638delG); ClinVar=VCV002040349; Zygosity=Heterozygous (PubMed=34182252).
Disease	Joubert syndrome 9 (NCIt: C181002) Joubert syndrome (ORDO: Orphanet_475)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A0KR ! UNIBSi016-B CVCL_A0KS ! UNIBSi016-C
Sex of cell	Female
Age at sampling	9Y
Category	Induced pluripotent stem cell
Publications	PubMed=34182252; DOI=10.1016/j.scr.2021.102430 Eltahir Ali, Rosalba Monica Ferraro, Adele Guglielmi, Gaetana Lanzi, Stefania Masneri, Giovanna Piovani, Elena Laura Mazzoldi, Lidia Pollara, Enza Maria Valente, Patrizia Accorsi, Lucio Giordano, Silvia Clara Giliani; Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene. Stem Cell Res. 54:102430-102430(2021)
Cell line databases/resources	hPSCreg; UNIBSi016-A
Encyclopedic resources	Wikidata; Q108821460
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6