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Cellosaurus UNIPVi004-A (CVCL_D0NE)

[Text version]
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; 25801; CPLANE1; Simple; p.Gly48Glu (c.143G>A); ClinVar=VCV001447842; Zygosity=Heterozygous (PubMed=38100914).
  • Mutation; 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
Mazzotta C., Serpieri V., Orsi A., Cavan S., Rossi E., Stanzial F., Valente E.M.
Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene.
Stem Cell Res. 74:103267-103267(2024)

Cross-references
Cell line databases/resources hPSCreg; UNIPVi004-A
Biological sample resources BioSamples; SAMEA113552511
Encyclopedic resources Wikidata; Q123033752
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3