Journal article

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, Miriam Fanjul-Fernandez, Natasha J Brown, Kate Pope, Cherie C Green, Katerina Vlahos, Koula Sourris, Melanie Bahlo, Martin Delatycki, Ingrid Scheffer, Paul J Lockhart



We have generated and characterized seven human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) from a single family, including unaffected and affected individuals clinically diagnosed with Autism Spectrum Disorder (ASD). The reprogramming of the PBMCs was performed using non-integrative Sendai virus containing the reprogramming factors POU5F1 (OCT4), SOX2, KLF4 and MYC. All iPSC lines exhibited a normal karyotype and pluripotency was validated by immunofluorescence, flow cytometry and their ability to differentiate into the three embryonic germ layers. These iPSC lines are a valuable resource to study the molecular mechanisms underlying ASD..

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Awarded by Australian National Health and Medical Research Council (NHMRC)

Funding Acknowledgements

We would like to thank the participants and their families for participating in our research. This study was funded in part by the Australian National Health and Medical Research Council (NHMRC) project grants (GNT1044175 and GNT1098255) awarded to E.G.S, M.B.D, I.S and P.J.L. K.B is supported by an E.H. Flack Fellowship and P.J.L is supported by the Vincent Chiodo Foundation. Additional infrastructure funding to the Murdoch Children's Research Institute 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. M.B and E.G.S are Research Fellows, and I.S is a Practitioner Fellow, of the NHMRC.