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Cellosaurus UNIBSi016-A (CVCL_A0KQ)

[Text version]

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 sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 29253; CC2D2A; Simple; p.Glu1000Val (c.2999A>T); ClinVar=VCV000217604; Zygosity=Heterozygous (PubMed=34182252).
  • Mutation; HGNC; 29253; CC2D2A; Simple; p.Gly1213Alafs*7 (c.3638delG); 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
Ali E., Ferraro R.M., Guglielmi A., Lanzi G., Masneri S., Piovani G., Mazzoldi E.L., Pollara L., Valente E.M., Accorsi P., Giordano L., Giliani S.C.
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)

Cross-references
Cell line databases/resources hPSCreg; UNIBSi016-A
Encyclopedic resources Wikidata; Q108821460
Entry history
Entry creation23-Sep-2021
Last entry update17-Mar-2022
Version number3