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

• Published in: Stem cell research Vol. 24; no. C; pp. 16 - 20
• Main Authors: Gomez Limia, Cintia E., Devalle, Sylvie, Reis, Marcelo, Sochacki, Jaroslaw, Carneiro, Mayra, Madeiro da Costa, Rodrigo, D'Andrea, Mariana, Padilha, Telma, Zalcberg, Ilana R., Solza, Cristiana, Daumas, Adelmo, Rehen, Stevens, Monte-Mór, Bárbara, Bonamino, Martín H.
• Format: Journal Article
• Language: English
• Published: Elsevier 01.10.2017
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2017.08.006

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.