Publications by authors named "Isabella Varea"
We have successfully generated human induced pluripotent stem cells (hiPSC) from peripheral blood mononuclear cells (PBMCs) of a patient with COPA Syndrome. The patient, a 6 year old Caucasian male, has a spontaneous de novo missense mutation that replaced alanine with proline in the COPA gene. This paper confirms the differentiation potential of the hiPSC line, the presence of the p.
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- Induced pluripotent stem cells (iPSCs) were created from peripheral blood cells of two patients with a CDC42 gene mutation.
- These iPSCs displayed characteristics of pluripotency, successfully differentiated into the three germ layers, maintained normal chromosomes, and retained the mutation.
- The generated iPSC lines and their derivatives could be useful for researching disease mechanisms and potential therapies.
Study of disease-relevant immune cells, namely monocytes and macrophages, is limited based on availability of primary tissue, a limitation that can be remedied using human induced pluripotent stem cell (hiPSC) technology. Here, we present a protocol for differentiation of monocytes and macrophages from hiPSCs. We describe steps for hiPSC maintenance, mesoderm lineage induction, hematopoietic progenitor cells (HPCs) commitment and expansion, and myeloid lineage induction.
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