Stem Cell Research (Oct 2017)

Generation and characterization of a human induced pluripotent stem (iPS) cell line derived from an acute myeloid leukemia patient evolving from primary myelofibrosis carrying the CALR 52 bp deletion and the ASXL1 p.R693X mutation

  • Cintia E. Gomez Limia,
  • Sylvie Devalle,
  • Marcelo Reis,
  • Jaroslaw Sochacki,
  • Mayra Carneiro,
  • Rodrigo Madeiro da Costa,
  • Mariana D'Andrea,
  • Telma Padilha,
  • Ilana R. Zalcberg,
  • Cristiana Solza,
  • Adelmo Daumas,
  • Stevens Rehen,
  • Bárbara Monte-Mór,
  • Martín H. Bonamino

DOI
https://doi.org/10.1016/j.scr.2017.08.006
Journal volume & issue
Vol. 24, no. C
pp. 16 – 20

Abstract

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Peripheral blood sample was donated by a 61 years old female patient diagnosed with acute myeloid leukemia secondary to a primary myelofibrosis harboring the 52-bp deletion in the CALR gene (c.1092_1143del, p.L367fs*46) and the R693X mutation in the ASXL1 gene (c.2077C>T, p.R693X). CD34+ cells were isolated from the sample and subjected to the reprogramming procedure by using the Sendai virus carrying the reprogramming factors Oct3/4, Sox2, Klf4 and c-Myc. iPS colonies generated retained the original mutations and displayed all the features of bona fide iPS cells.