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Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B).
Ding, Yicheng; O'Brien, Aisling; Marcó de la Cruz, Berta; Yang, Meimei; Lu, Yin; Qian, Xiaohong; Yang, Guangming; McInerney, Veronica; Krawczyk, Janusz; Lynch, Sally A; Howard, Linda; Allen, Nicholas M; O'Brien, Timothy; Gallagher, Louise; Shen, Sanbing.
Afiliação
  • Ding Y; Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI), Galway, Ireland.
  • O'Brien A; Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI), Galway, Ireland.
  • Marcó de la Cruz B; Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI), Galway, Ireland.
  • Yang M; Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI), Galway, Ireland; FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin D02, Ireland.
  • Lu Y; 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.
  • Qian X; State Key Laboratory of Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences, Beijing Institute of Proteomics, Beijing, China.
  • Yang G; College of Pharmacy, Nanjing University of Chinese Medicine, Nanjing, Jiangsu, China.
  • McInerney V; HRB Clinical Research Facility, National University of Ireland (NUI), Galway, Ireland.
  • Krawczyk J; Department of Haematology, Galway University Hospital, Ireland.
  • Lynch SA; National Rare Disease Office, Mater Misericordiae University Hospital, Academic Centre on Rare Diseases, University College Dublin, Dublin, Ireland.
  • Howard L; Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI), Galway, Ireland.
  • Allen NM; Department of Paediatrics (Neurology), Galway University Hospital, Regenerative Medicine Institute School of Medicine, National University of Ireland (NUI), Galway, Ireland; The National Children's Research Centre, Children's Health Ireland at Crumlin, Dublin, Ireland.
  • O'Brien T; Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI), Galway, Ireland; Curam National University of Ireland (NUI), Galway, Ireland.
  • Gallagher L; Trinity Institute of Neuroscience, Trinity College Dublin, Dublin, Ireland. Electronic address: lgallagh@tcd.ie.
  • Shen S; Regenerative Medicine Institute, School of Medicine, National University of Ireland (NUI), Galway, Ireland; FutureNeuro Research Centre, Royal College of Surgeons in Ireland, Dublin D02, Ireland. Electronic address: sanbing.shen@nuigalway.ie.
Stem Cell Res ; 53: 102254, 2021 05.
Article em En | MEDLINE | ID: mdl-33631419
NRXN1 deletions are commonly found in autism spectrum disorder (ASD) and other neurodevelopmental/neuropsychiatric disorders. Derivation of induced pluripotent stem cells (iPSCs) from different diseases involving different deletion regions are essential, as NRXN1 may produce thousands of splicing variants. We report here the derivation of iPSCs from a sibling control and an ASD proband carrying de novo heterozygous deletions in the middle region of NRXN1, using a non-integrating Sendai viral kit. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. All iPSC lines highly expressed pluripotency markers and could be differentiated into three germ layers.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células-Tronco Pluripotentes Induzidas / Transtorno do Espectro Autista Limite: Humans / Male Idioma: En Revista: Stem Cell Res Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células-Tronco Pluripotentes Induzidas / Transtorno do Espectro Autista Limite: Humans / Male Idioma: En Revista: Stem Cell Res Ano de publicação: 2021 Tipo de documento: Article