Cellosaurus cell line iPS ADPKD 1 (CVCL

Cross-references
Cell line name	iPS ADPKD 1
Accession	CVCL_V449
Resource Identification Initiative	To cite this cell line use: iPS ADPKD 1 (RRID:CVCL_V449)
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.Cys39Tyr (c.116G>A); ClinVar=VCV001310359; 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	60Y
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)
Encyclopedic resources	Wikidata; Q54898072
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	12