• Mutation; HGNC; HGNC:8008; NRXN1; Unexplicit; Ex6-15del; Zygosity=Heterozygous; Note=De novo mutation (PubMed=31893021; PubMed=33631419).
  

PubMed=31893021; DOI=10.1186/s13229-019-0303-3; PMCID=PMC6937972
Sahar Avazzadeh, Katya McDonagh, Jamie Reilly, Yan-Qin Wang, Stephanie D. Boomkamp, Veronica McInerney, Janusz Krawczyk, Jacqueline Fitzgerald, Niamh Feerick, Matthew O'Sullivan, Amirhossein Jalali ...Show all 21 authors... , Eva B. Forman, Sally A. Lynch, Sean Ennis, Nele Cosemans, Hilde Peeters, Peter Dockery, Timothy O'Brien, Leo R. Quinlan, Louise Gallagher, San-Bing Shen; Show fewer authors
Increased Ca(2+) signaling in NRXN1alpha (+/-) neurons derived from ASD induced pluripotent stem cells.
Mol. Autism 10:52.1-52.16(2019)

PubMed=33631419; DOI=10.1016/j.scr.2021.102254
Yi-Cheng Ding, Aisling O'Brien, Berta Marco de la Cruz, Mei-Mei Yang, Yin Lu, Xiao-Hong Qian, Guang-Ming Yang, Veronica McInerney, Janusz Krawczyk, Sally A. Lynch, Linda Howard ...Show all 15 authors... , Nicholas Mark Allen, Timothy O'Brien, Louise Gallagher, San-Bing Shen; Show fewer authors
Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1alpha gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B).
Stem Cell Res. 53:102254-102254(2021)