Neuronal defects in a human cellular model of 22q11.2 deletion syndrome
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome
About this item
Full title
Author / Creator
Khan, Themasap A. , Revah, Omer , Gordon, Aaron , Yoon, Se-Jin , Krawisz, Anna K. , Goold, Carleton , Sun, Yishan , Kim, Chul Hoon , Tian, Yuan , Li, Min-Yin , Schaepe, Julia M. , Ikeda, Kazuya , Amin, Neal D. , Sakai, Noriaki , Yazawa, Masayuki , Kushan, Leila , Nishino, Seiji , Porteus, Matthew H. , Rapoport, Judith L. , Bernstein, Jonathan A. , O’Hara, Ruth , Bearden, Carrie E. , Hallmayer, Joachim F. , Huguenard, John R. , Geschwind, Daniel H. , Dolmetsch, Ricardo E. and Paşca, Sergiu P.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
22q11.2 deletion syndrome (22q11DS) is a highly penetrant and common genetic cause of neuropsychiatric disease. Here we generated induced pluripotent stem cells from 15 individuals with 22q11DS and 15 control individuals and differentiated them into three-dimensional (3D) cerebral cortical organoids. Transcriptional profiling across 100 days showed...
Alternative Titles
Full title
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome
Authors, Artists and Contributors
Author / Creator
Revah, Omer
Gordon, Aaron
Yoon, Se-Jin
Krawisz, Anna K.
Goold, Carleton
Sun, Yishan
Kim, Chul Hoon
Tian, Yuan
Li, Min-Yin
Schaepe, Julia M.
Ikeda, Kazuya
Amin, Neal D.
Sakai, Noriaki
Yazawa, Masayuki
Kushan, Leila
Nishino, Seiji
Porteus, Matthew H.
Rapoport, Judith L.
Bernstein, Jonathan A.
O’Hara, Ruth
Bearden, Carrie E.
Hallmayer, Joachim F.
Huguenard, John R.
Geschwind, Daniel H.
Dolmetsch, Ricardo E.
Paşca, Sergiu P.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8525897
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8525897
Other Identifiers
ISSN
1078-8956
E-ISSN
1546-170X
DOI
10.1038/s41591-020-1043-9