Cellosaurus logo
expasy logo

Cellosaurus UNIPVi001-A (CVCL_C6TC)

[Text version]
Cell line name UNIPVi001-A
Synonyms COR248; NG2409
Accession CVCL_C6TC
Resource Identification Initiative To cite this cell line use: UNIPVi001-A (RRID:CVCL_C6TC)
Comments From: Units of Biology and Genetics, University of Pavia; Pavia; Italy.
Population: Caucasian.
Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:21575; AHI1; Simple; p.Gln263Profs*8 (c.787dupC); Zygosity=Homozygous (PubMed=36521382).
Disease Joubert syndrome 3 (NCIt: C148259)
Joubert syndrome with ocular defect (ORDO: Orphanet_220493)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=36521382; DOI=10.1016/j.scr.2022.103002
Valentina Serpieri, Andrea Orsi, Concetta Mazzotta, Silvia Cavan, Elisabetta Rossi, Barbara Scelsa, Enza Maria Valente;
Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene.
Stem Cell Res. 66:103002-103002(2023)

Cross-references
Cell line databases/resources hPSCreg; UNIPVi001-A
Biological sample resources BioSamples; SAMEA110683809
Encyclopedic resources Wikidata; Q117704940
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3