Establishment of human iPSC line from patient of Indian ethnicity carrying homozygous CD8/9 (+G) beta thalassemia mutation


This study shows generation of iPSCs from peripheral blood mononuclear cells (PBMNCs) of a male patient having homozygous CD 8/9 (+G) beta thalassemia (major) mutation. Cells were nucleofected with episomal vectors containing Oct4, Sox2, L-Myc, Lin28, Klf4 and p53DD (dominant negative p53 mutation). Cell line exhibited presence of pluripotency markers by immunofluorescence, flow-cytometry and PCR. The plasmids were lost from cells by subsequent passages, observed by PCR. Karyotype analysis demonstrated a stable genome. The cells had capability to differentiate into three-germ lineages in vitro. This iPSC line can be used as a tool for drug design and gene therapy studies. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Tembe S, Fernandes S, Khan N, Melinkeri S, Kale V, Limaye L
Journal Stem cell research
Publication Date 2020 Apr;44:101772
PubMed 32278313
DOI 10.1016/j.scr.2020.101772

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