title: A telomerase immortalized human proximal tubule cell line with a truncation mutation (Q4004X) in polycystin-1.
abstract: Autosomal dominant polycystic kidney disease (ADPKD) is associated with a variety of cellular phenotypes in renal epithelial cells. Cystic epithelia are secretory as opposed to absorptive, have higher proliferation rates in cell culture and have some characteristics of epithelial to mesenchymal transitions. In this communication we describe a telomerase immortalized cell line that expresses proximal tubule markers and is derived from renal cysts of an ADPKD kidney. These cells have a single detectable truncating mutation (Q4004X) in polycystin-1. These cells make normal appearing but shorter cilia and fail to assemble polycystin-1 in the cilia, and less uncleaved polycystin-1 in membrane fractions. This cell line has been maintained in continuous passage for over 35 passages without going into senescence. Nephron segment specific markers suggest a proximal tubule origin for these cells and the cell line will be useful to study mechanistic details of cyst formation in proximal tubule cells.
authors: Department of Medical and Molecular Genetics, Indiana University, Indianapolis, Indiana, United States of America.
authors: Brittney-Shea
authors: BS
authors: Herbert
authors: Brenda R
authors: BR
authors: Grimes
authors: Wei Min
authors: WM
authors: Xu
authors: Michael
authors: M
authors: Werner
authors: Christopher
authors: C
authors: Ward
authors: Sandro
authors: S
authors: Rossetti
authors: Peter
authors: P
authors: Harris
authors: Elsa
authors: E
authors: Bello-Reuss
authors: Heather H
authors: HH
authors: Ward
authors: Caroline
authors: C
authors: Miller
authors: Vincent H
authors: VH
authors: Gattone
authors: Carrie L
authors: CL
authors: Phillips
authors: Angela
authors: A
authors: Wandinger-Ness
authors: Robert L
authors: RL
authors: Bacallao
mesh_terms: D002460:Cell Line; D018389:Codon, Nonsense / Q000235:genetics*; D005434:Flow Cytometry; D005455:Fluorescent Antibody Technique; D006801:Humans; D015151:Immunoblotting; D007687:Kidney Tubules, Proximal / Q000166:cytology*; D008855:Microscopy, Electron, Scanning; D046529:Microscopy, Electron, Transmission; D016891:Polycystic Kidney, Autosomal Dominant / Q000473:pathology*; D050396:TRPP Cation Channels / Q000235:genetics*; D019098:Telomerase / Q000378:metabolism*; D014161:Transduction, Genetic
chemical_list: D018389:Codon, Nonsense; D050396:TRPP Cation Channels; D019098:Telomerase
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