Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)

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Abstract

Hundreds of rare risk factors have been identified for ASD, however, the underlying causes for ~70% of sporadic cases are unknown. Sporadic ASD models are thus essential for validating phenotypic commonality and drug suitability to the majority of patients. Here, we derived induced pluripotent stem cells (iPSCs) from one sporadic ASD child and one paternal control, using non-integrating Sendai viral methods. The iPSCs strongly expressed pluripotency markers and could be differentiated into three germ layers. Their normal karyotype was validated by genome SNP array. The availability of sporadic ASD-derived iPSCs offers an opportunity for phenotypic comparison with genetic ASD models.Hundreds of rare risk factors have been identified for ASD, however, the underlying causes for ~70% of sporadic cases are unknown. Sporadic ASD models are thus essential for validating phenotypic commonality and drug suitability to the majority of patients. Here, we derived induced pluripotent stem cells (iPSCs) from one sporadic ASD child and one paternal control, using non-integrating Sendai viral methods. The iPSCs strongly expressed pluripotency markers and could be differentiated into three germ layers. Their normal karyotype was validated by genome SNP array. The availability of sporadic ASD-derived iPSCs offers an opportunity for phenotypic comparison with genetic ASD models.
Original languageEnglish (Ireland)
Number of pages101722
JournalEur J Hum Geneteur J Hum Genet
Volume44
Publication statusPublished - 1 Apr 2020

Authors (Note for portal: view the doc link for the full list of authors)

  • Authors
  • Fitzsimons, M.,Greally, M.,Delanty, N.,Cavalleri, G. L.,de la Cruz, B. M.,Ding, Y.,McInerney, V.,Krawczyk, J.,Lu, Y.,Yang, G.,Qian, X.,Li, W.,Howard, L.,Allen, N. M.,O'Brien, T.,Gallagher, L.,Shen, S.

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