ID IBMS-iPSC-013-07 AC CVCL_RP79 DR BCRC; SC81044 DR BCRC; SC81045 DR SKIP; SKIP005631 DR SKIP; SKIP005632 DR Wikidata; Q54897191 CC From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan. CC Population: Chinese; Taiwan. CC Sequence variation: Mutation; HGNC; HGNC:9008; PKD1; Simple; p.Gln533Ter (c.1597C>T); Zygosity=Heterozygous (from autologous cell line IBMS-iPSC-013-06). CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. DI NCIt; C84578; Autosomal dominant polycystic kidney disease DI ORDO; Orphanet_730; Autosomal dominant polycystic kidney disease OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_QY05 ! IBMS-iPSC-013-06 SX Male AG 37Y CA Induced pluripotent stem cell DT Created: 05-03-18; Last updated: 19-12-24; Version: 11 //