A Telomerase Immortalized Human Proximal Tubule Cell Line with a Truncation Mutation (Q4004X) in Polycystin-1

Brittney Shea Herbert, Brenda R. Grimes, Wei Min Xu, Michael Werner, Christopher Ward, Sandro Rossetti, Peter Harris, Elsa Bello-Reuss, Heather H. Ward, Caroline Miller, Vincent H. Gattone, Carrie L. Phillips, Angela Wandinger-Ness, Robert L. Bacallao

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9 Scopus citations


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 [1,2]. 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.

Original languageEnglish (US)
Article numbere55191
JournalPloS one
Issue number1
StatePublished - Jan 28 2013

ASJC Scopus subject areas

  • General


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