TY - JOUR
KW - CRISPR-Cas9
KW - Gene Editing
KW - human induced pluripotent stem cells
KW - Neurodevelopmental disorders
AU - Cidi Chen
AU - Wardiya Afshar-Saber
AU - Isabela Iglesias
AU - Kristina Kim
AU - Becca Lewis
AU - Gayathri Srinivasan
AU - Celeste Chen
AU - Remi Hirsh
AU - Ryan Guardado
AU - Taryn Polanco
AU - Amanda Swanson
AU - Erika Norabuena
AU - Dosh Whye
AU - Ashish Jain
AU - Chunhui Cai
AU - Liang Sun
AU - Maya Chopra
AU - Ivy Chen
AU - Grazia Iannello
AU - Brian Rozumny
AU - Ellen Hanson
AU - Mustafa Sahin
AU - Elizabeth D. Buttermore
AB - In this manuscript, we report the development of a comprehensive resource designed to harness the transformative potential of patient-derived induced pluripotent stem cells (iPSCs) to advance the study of neurodevelopmental disorders (NDDs). Using CRISPR-Cas-mediated genome editing, the Human Neuron Core generated a repository comprising 29 isogenic iPSC pairs, two sex-matched parental control iPSC pairs, and one unmatched patient line representing six monogenic NDDs: Tuberous Sclerosis Complex, PTEN Hamartoma Tumor Syndrome, KCNQ2 Developmental and Epileptic Encephalopathy, FOXG1 Syndrome, Phelan-McDermid Syndrome, and SETBP1 Haploinsufficiency Disorder. In parallel, detailed clinical phenotyping data were collected to enable comparison of cellular phenotypes with clinical severity in future studies. This integrated collection of genetically defined iPSC lines and associated clinical data provides a powerful platform for investigating disease mechanisms and advancing iPSC-based drug discovery for NDDs.
BT - Stem Cell Research
DA - 2026-09-01
DO - 10.1016/j.scr.2026.104073
N2 - In this manuscript, we report the development of a comprehensive resource designed to harness the transformative potential of patient-derived induced pluripotent stem cells (iPSCs) to advance the study of neurodevelopmental disorders (NDDs). Using CRISPR-Cas-mediated genome editing, the Human Neuron Core generated a repository comprising 29 isogenic iPSC pairs, two sex-matched parental control iPSC pairs, and one unmatched patient line representing six monogenic NDDs: Tuberous Sclerosis Complex, PTEN Hamartoma Tumor Syndrome, KCNQ2 Developmental and Epileptic Encephalopathy, FOXG1 Syndrome, Phelan-McDermid Syndrome, and SETBP1 Haploinsufficiency Disorder. In parallel, detailed clinical phenotyping data were collected to enable comparison of cellular phenotypes with clinical severity in future studies. This integrated collection of genetically defined iPSC lines and associated clinical data provides a powerful platform for investigating disease mechanisms and advancing iPSC-based drug discovery for NDDs.
PY - 2026
EP - 104073
T2 - Stem Cell Research
TI - Development of a human iPSC and patient phenotyping resource for preclinical investigations of neurodevelopmental disorders
UR - https://www.sciencedirect.com/science/article/pii/S1873506126001698
VL - 95
Y2 - 2026-10-13
SN - 1873-5061
ER -