JAK2 V617F prevalence in Brazilian patients with polycythemia vera, idiopathic myelofibrosis and essential thrombocythemia

Polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) are myeloproliferative disorders (MPD) that arise from the clonal proliferation of a pluripotent hematopoietic progenitor, leading to the overproduction of one or more myeloid lineages. Recently, a specific mutation in the JAK2 gene, which encodes a tyrosine kinase, has been shown to be associated with the myeloproliferative phenotype observed in PV, ET and IMF. In this study of Brazilian patients, the JAK2 V617F mutation [c.1887G > T) was detected in four out of 49 patients with PV (96%), 14 out of 25 patients with IMF (56%), and in eight out of 29 patients with ET, which is in accordance with previous screenings of this mutation in other populations.336338Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES

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

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 tableUnlabelled TableUnique stem cell line identifierINCABRi002-AAlternative name(s) of stem cell linePMF3.17InstitutionBrazilian National Cancer Institute and D'Or Institute for Research and EducationContact information of distributorMartin Bonamino, PhD, [email protected], Bárbara Monte Mór, PhD, [email protected], Stevens Rehen, PhD, [email protected] of cell lineiPS cellOriginHumanAdditional origin infoAge: 65Sex: maleCell sourcePeripheral bloodClonalityClonalMethod of reprogrammingSendai VirusGenetic modificationNoType of modificationNot applicableAssociated diseasePrimary myelofibrosisGeneCALR gene: CALRins5, c.1154_1155insTTGTC, p.K385 fs*47TP53 gene: c.437 G > A, p.W146XMethod of modificationNot applicableName of transgene or resistanceNot applicableInducible/constitutive systemNot applicableDate archived/stock dateJuly 7th, 2015Cell line repository/bankNot applicableEthical approvalEthics Committee of the Brazilian National Cancer Institute (INCA) under the number 062/08. Ethics Review Board-competent authority obtained

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

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