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)
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...
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Format: | Article |
Language: | English |
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Elsevier
2019-12-01
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Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506119302831 |
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author | Yicheng Ding Berta Marcó de la Cruz Yawen Xia Min Liu Yin Lu Veronica McInerney Janusz Krawczyk Sally A. Lynch Linda Howard Timothy O'Brien Louise Gallagher Sanbing Shen |
author_facet | Yicheng Ding Berta Marcó de la Cruz Yawen Xia Min Liu Yin Lu Veronica McInerney Janusz Krawczyk Sally A. Lynch Linda Howard Timothy O'Brien Louise Gallagher Sanbing Shen |
author_sort | Yicheng Ding |
collection | DOAJ |
description | 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. |
first_indexed | 2024-12-13T07:23:16Z |
format | Article |
id | doaj.art-2d8cecdca7964838860545db65b61e29 |
institution | Directory Open Access Journal |
issn | 1873-5061 |
language | English |
last_indexed | 2024-12-13T07:23:16Z |
publishDate | 2019-12-01 |
publisher | Elsevier |
record_format | Article |
series | Stem Cell Research |
spelling | doaj.art-2d8cecdca7964838860545db65b61e292022-12-21T23:55:21ZengElsevierStem Cell Research1873-50612019-12-0141Derivation 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)Yicheng Ding0Berta Marcó de la Cruz1Yawen Xia2Min Liu3Yin Lu4Veronica McInerney5Janusz Krawczyk6Sally A. Lynch7Linda Howard8Timothy O'Brien9Louise Gallagher10Sanbing Shen11Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Biomedical Science Building BMS-1021, Dangan, Upper Newcastle, Galway, IrelandRegenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Biomedical Science Building BMS-1021, Dangan, Upper Newcastle, Galway, IrelandRegenerative 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, ChinaRegenerative 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, ChinaSchool 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, ChinaHRB Clinical Research Facility, National University of Ireland (NUI) Galway, IrelandDepartment of Haematology, Galway University Hospital, IrelandNational Rare Disease Office, Mater Misericordiae University Hospital; Academic Centre on Rare Diseases, University College Dublin, Dublin, IrelandRegenerative Medicine Institute, School of Medicine, National University of Ireland (NUI) Galway, Biomedical Science Building BMS-1021, Dangan, Upper Newcastle, Galway, IrelandRegenerative 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, IrelandTrinity Institute of Neuroscience, Trinity College Dublin, Dublin, Ireland; Corresponding authors.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, IrelandNRXN1 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.http://www.sciencedirect.com/science/article/pii/S1873506119302831 |
spellingShingle | Yicheng Ding Berta Marcó de la Cruz Yawen Xia Min Liu Yin Lu Veronica McInerney Janusz Krawczyk Sally A. Lynch Linda Howard Timothy O'Brien Louise Gallagher Sanbing Shen 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) Stem Cell Research |
title | 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) |
title_full | 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) |
title_fullStr | 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) |
title_full_unstemmed | 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) |
title_short | 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) |
title_sort | 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 |
url | http://www.sciencedirect.com/science/article/pii/S1873506119302831 |
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