Characterization of a human induced Pluripotent Stem (iPS) cell line (INCABRi002-A) derived from a primary myelofibrosis patient harboring the 5-bp insertion in < /i>CALR< //i> and the p.W146X mutation in < /i>TP53< //i>

Gomez Limia, Cintia E; Devalle, Sylvie; Reis, Marcelo; Sochacki, Jaroslaw; da Costa, Rodrigo Madeiro; D'Andrea, Mariana; Padilha, Telma; Zalcberg, Ilana R; Solza, Cristiana; Daumas, Adelmo; Rehen, Stevens; Bonamino, Martin H; Monte-Mor, Barbara

doi:10.1016/j.scr.2018.09.012

Characterization of a human induced Pluripotent Stem (iPS) cell line (INCABRi002-A) derived from a primary myelofibrosis patient harboring the 5-bp insertion in < /i>CALR< //i> and the p.W146X mutation in < /i>TP53< //i>

Author:

Gomez Limia, Cintia E

Devalle, Sylvie ; Reis, Marcelo ; Sochacki, Jaroslaw ; da Costa, Rodrigo Madeiro ; D'Andrea, Mariana ; Padilha, Telma ; Zalcberg, Ilana R ; Solza, Cristiana ; Daumas, Adelmo ; Rehen, Stevens ; Bonamino, Martin H ; Monte-Mor, Barbara

Keywords:

Science & Technology, Life Sciences & Biomedicine, Cell & Tissue Engineering, Biotechnology & Applied Microbiology, Cell Biology, SOMATIC MUTATIONS, Aged, Humans, Induced Pluripotent Stem Cells, Male, Mutation, Primary Myelofibrosis, Tumor Suppressor Protein p53, 06 Biological Sciences, 11 Medical and Health Sciences, Developmental Biology, 3105 Genetics, 3206 Medical biotechnology, 3211 Oncology and carcinogenesis

Abstract:

Primary myelofibrosis (PMF) is a hematological malignancy characterized by activation of the JAK/STAT pathway and risk of leukemic transformation. In this study, we generated an induced Pluripotent Stem (iPS) cell line derived from a 65-year old male PMF patient carrying the 5-pb insertion in the CALR gene (CALRins5) and the c.437 G > A mutation in the TP53 gene (p.W146X). The newly derived PMF3.17 iPS cell line harbors the original mutations and was characterized as bona fide iPS. Resource table.