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Cellosaurus UNIBSi016-C (CVCL_A0KS)

[Text version]
Cell line name UNIBSi016-C
Synonyms JS_CG_C17
Accession CVCL_A0KS
Resource Identification Initiative To cite this cell line use: UNIBSi016-C (RRID:CVCL_A0KS)
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; 29253; CC2D2A; Simple; p.Glu1000Val (c.2999A>T); ClinVar=VCV000217604; Zygosity=Heterozygous (PubMed=34182252).
  • Mutation; 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_A0KQ ! UNIBSi016-A
CVCL_A0KR ! UNIBSi016-B
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-C
Encyclopedic resources Wikidata; Q108821463
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5