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Stem Cell Res. 2019 Nov 13;41:101653. doi: 10.1016/j.scr.2019.101653. [Epub ahead of print]

Derivation of familial iPSC lines from three ASD patients carrying NRXN1α+/- and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B).

Author information

1
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Biomedical Science Building BMS-1021, Dangan, Upper Newcastle, Galway, Ireland.
2
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Biomedical Science Building BMS-1021, Dangan, Upper Newcastle, Galway, Ireland; School of Pharmacy, Jiangsu Key Laboratory for Pharmacology and Safety Evaluation of Chinese Materia Medica; Jiangsu Collaborative Innovation Center of Traditional Chinese Medicine (TCM) Prevention and Treatment of Tumor, Nanjing University of Chinese Medicine, Nanjing, Jiangsu 210023, China.
3
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Biomedical Science Building BMS-1021, Dangan, Upper Newcastle, Galway, Ireland; Department of Physiology, College of Life Science, Hebei Normal University, Shijiazhuang, China.
4
School of Pharmacy, Jiangsu Key Laboratory for Pharmacology and Safety Evaluation of Chinese Materia Medica; Jiangsu Collaborative Innovation Center of Traditional Chinese Medicine (TCM) Prevention and Treatment of Tumor, Nanjing University of Chinese Medicine, Nanjing, Jiangsu 210023, China.
5
HRB Clinical Research Facility, National University of Ireland (NUI) Galway, Ireland.
6
Department of Haematology, Galway University Hospital, Ireland.
7
National Rare Disease Office, Mater Misericordiae University Hospital; Academic Centre on Rare Diseases, University College Dublin, Dublin, Ireland.
8
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Biomedical Science Building BMS-1021, Dangan, Upper Newcastle, Galway, Ireland; Curam, SFI Research Centre, National University of Ireland (NUI) Galway, Dangan, Upper Newcastle, Galway, Ireland.
9
Trinity Institute of Neuroscience, Trinity College Dublin, Dublin, Ireland. Electronic address: LGALLAGH@tcd.ie.
10
Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Biomedical Science Building BMS-1021, Dangan, Upper Newcastle, Galway, Ireland; Future Neuro Research Centre, Royal College of Surgeons in Ireland, Dublin D02, Ireland. Electronic address: sanbing.shen@nuigalway.ie.

Abstract

NRXN1 copy number variation is a rare genetic factor commonly shared among autism spectrum disorder (ASD), schizophrenia, intellectual disability, epilepsy and developmental delay. Human induced pluripotent stem cells (iPSCs) are essential for disease modeling and drug discovery, but familial cases are particularly rare. We report here the derivation of familial iPSC lines from two controls and three ASD patients carrying NRXN1α+/-, using a non-integrating Sendai viral kit. The genotype and karyotype of the resulting iPSCs were validated by whole genome SNP array. All iPSC lines expressed comparable levels of pluripotency markers and could be differentiated into three germ layers.

PMID:
31759289
DOI:
10.1016/j.scr.2019.101653
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