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Cellosaurus iPS ADPKD 2 (CVCL_V450)

[Text version]
Cell line name iPS ADPKD 2
Accession CVCL_V450
Resource Identification Initiative To cite this cell line use: iPS ADPKD 2 (RRID:CVCL_V450)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Arg2051Pro (c.6152G>C); Zygosity=Unspecified (PubMed=24009235).
Disease Autosomal dominant polycystic kidney disease (NCIt: C84578)
Autosomal dominant polycystic kidney disease (ORDO: Orphanet_730)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 44Y
Category Induced pluripotent stem cell
Publications

PubMed=24009235; DOI=10.1681/ASN.2012111089; PMCID=PMC3785271
Freedman B.S., Lam A.Q., Sundsbak J.L., Iatrino R., Su X.-F., Koon S.J., Wu M.-Q., Daheron L., Harris P.C., Zhou J., Bonventre J.V.
Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations.
J. Am. Soc. Nephrol. 24:1571-1586(2013)

Cross-references
Encyclopedic resources Wikidata; Q54898073
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number11