Journal article

Generation of four iPSC lines from Neurofibromatosis Type 1 patients

Kiymet Bozaoglu, Wei Shern Lee, Kristina M Haebich, Kathryn N North, Jonathan M Payne, Paul J Lockhart

STEM CELL RESEARCH | ELSEVIER | Published : 2020

Abstract

We describe the generation and characterisation of four human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMC) from individuals with neurofibromatosis type (NF1). PBMC reprogramming was performed using a non-integrative Sendai virus containing the reprogramming factors OCT4, SOX2, MYC and KLF4. All iPSC lines exhibited a normal karyotype, and pluripotency was validated by flow cytometry (EPCAM, TRA-1-81, SSEA1 and CD9) and immunofluorescence (OCT4 and Nanog). Differentiation of the cells into the three embryonic germ layers was confirmed using immunofluorescence. These iPSC lines are a valuable pre-clinical resource to study the molecular mechanisms u..

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Funding Acknowledgements

We would like to thank the participants and their families for participating in our research. This research was partly funded by the Barney neurofibromatosis fund. K.B is supported by an E.H. Flack Fellowship, P.J.L is supported by the Vincent Chiodo Foundation, and J.M.P is supported by a MCRI Clinician Scientist Fellowship. Additional infrastructure funding to the MCRI was provided by the Australian Government NHMRC Independent Research Institute Infrastructure Support Scheme and the Victorian Government's Operational Infrastructure Support Program. The MCRI iPSC Core Facility is supported by the Stafford Fox Medical Research Foundation