Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1 deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B).

Veronica Mcinerney; Linda Howard; Timothy O'Brien; Sanbing Shen

doi:10.1016/j.scr.2021.102222

Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1 deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B).

Medicine

University of Galway
Royal College of Surgeons in Ireland
Trinity College Dublin
Nanjing University of Chinese Medicine
Shanghai Jiao Tong University
Galway University Hospital
Mater Misericordiae University Hospital
Children's Health Ireland at Temple St. Children's University Hospital

Research output: Contribution to a Journal (Peer & Non Peer) › Article › peer-review

Abstract

NRXN1 encodes thousands of splicing variants categorized into long NRXN1, short NRXN1ß and extremely short NRXN1, which exert differential roles in neuronal excitation inhibition. NRXN1 deletions are common in autism spectrum disorder (ASD) and other neurodevelopmental neuropsychiatric disorders. We derived induced pluripotent stem cells (iPSCs) from one sibling control and two ASD probands carrying NRXN1+ -, using non-integrating Sendai viral method. All iPSCs highly expressed pluripotency markers and could be differentiated into ectodermal mesodermal endodermal cells. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. The availability of the iPSCs offers an opportunity for understanding NRXN1 function in human neurons and in ASD.

Original language	English (Ireland)
Article number	102222
Journal	Stem Cell Research
Volume	52
DOIs	https://doi.org/10.1016/j.scr.2021.102222
Publication status	Published - 1 Feb 2021

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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Authors
Ding Y;O'Brien A;de la Cruz BM;Yang M;Fitzgerald J;Yang G;Li W;McInerney V;Krawczyk J;Lynch SA;Howard L;Allen NM;O'Brien T;Gallagher L;Shen S;

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10.1016/j.scr.2021.102222

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@article{ff4b48dc8927491cb0d74de9a80c7b78,

title = "Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1 deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B).",

abstract = "NRXN1 encodes thousands of splicing variants categorized into long NRXN1, short NRXN1{\ss} and extremely short NRXN1, which exert differential roles in neuronal excitation inhibition. NRXN1 deletions are common in autism spectrum disorder (ASD) and other neurodevelopmental neuropsychiatric disorders. We derived induced pluripotent stem cells (iPSCs) from one sibling control and two ASD probands carrying NRXN1+ -, using non-integrating Sendai viral method. All iPSCs highly expressed pluripotency markers and could be differentiated into ectodermal mesodermal endodermal cells. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. The availability of the iPSCs offers an opportunity for understanding NRXN1 function in human neurons and in ASD.",

author = "Veronica Mcinerney and Linda Howard and Timothy O'Brien and Sanbing Shen",

note = "Publisher Copyright: {\textcopyright} 2021 The Authors",

year = "2021",

month = feb,

day = "1",

doi = "10.1016/j.scr.2021.102222",

language = "English (Ireland)",

volume = "52",

journal = "Stem Cell Research",

}

Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1 deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B). / Mcinerney, Veronica ; Howard, Linda ; O'Brien, Timothy et al.
In: Stem Cell Research, Vol. 52, 102222, 01.02.2021.

Research output: Contribution to a Journal (Peer & Non Peer) › Article › peer-review

TY - JOUR

T1 - Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1 deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B).

AU - Mcinerney, Veronica

AU - Howard, Linda

AU - O'Brien, Timothy

AU - Shen, Sanbing

PY - 2021/2/1

Y1 - 2021/2/1

N2 - NRXN1 encodes thousands of splicing variants categorized into long NRXN1, short NRXN1ß and extremely short NRXN1, which exert differential roles in neuronal excitation inhibition. NRXN1 deletions are common in autism spectrum disorder (ASD) and other neurodevelopmental neuropsychiatric disorders. We derived induced pluripotent stem cells (iPSCs) from one sibling control and two ASD probands carrying NRXN1+ -, using non-integrating Sendai viral method. All iPSCs highly expressed pluripotency markers and could be differentiated into ectodermal mesodermal endodermal cells. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. The availability of the iPSCs offers an opportunity for understanding NRXN1 function in human neurons and in ASD.

AB - NRXN1 encodes thousands of splicing variants categorized into long NRXN1, short NRXN1ß and extremely short NRXN1, which exert differential roles in neuronal excitation inhibition. NRXN1 deletions are common in autism spectrum disorder (ASD) and other neurodevelopmental neuropsychiatric disorders. We derived induced pluripotent stem cells (iPSCs) from one sibling control and two ASD probands carrying NRXN1+ -, using non-integrating Sendai viral method. All iPSCs highly expressed pluripotency markers and could be differentiated into ectodermal mesodermal endodermal cells. The genotype and karyotype of the iPSCs were validated by whole genome SNP array. The availability of the iPSCs offers an opportunity for understanding NRXN1 function in human neurons and in ASD.

UR - http://www.scopus.com/inward/record.url?scp=85100633618&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2021.102222

DO - 10.1016/j.scr.2021.102222

M3 - Article

VL - 52

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 102222

ER -

Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1 deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B).

Abstract

UN SDGs

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

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