ID   iPS ADPKD 1
AC   CVCL_V449
DR   Wikidata; Q54898072
RX   PubMed=24009235;
CC   Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Cys39Tyr (c.116G>A); ClinVar=VCV001310359; Zygosity=Unspecified (PubMed=24009235).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84578; Autosomal dominant polycystic kidney disease
DI   ORDO; Orphanet_730; Autosomal dominant polycystic kidney disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 12
//
RX   PubMed=24009235; DOI=10.1681/ASN.2012111089; PMCID=PMC3785271;
RA   Freedman B.S., Lam A.Q., Sundsbak J.L., Iatrino R., Su X.-F., Koon S.J.,
RA   Wu M.-Q., Daheron L., Harris P.C., Zhou J., Bonventre J.V.;
RT   "Reduced ciliary polycystin-2 in induced pluripotent stem cells from
RT   polycystic kidney disease patients with PKD1 mutations.";
RL   J. Am. Soc. Nephrol. 24:1571-1586(2013).
//