Generation and characterization of human-induced pluripotent stem cell lines from patients with autism spectrum disorder and SCN2A variants.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Corynne Stephanie Ahouefa Adanho, Katia Nunes da Silva, Erick Correia Loiola, Carolina Kymie Vasques Nonaka, Bruno Diaz Paredes, Clarissa Araújo Gurgel Rocha, Ian Marinho Santos, John Lenon de Souza Santos, Viviane Aline Oliveira Silva, Bruno Solano de Freitas Souza

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: Japan : Human cell , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 725649

Autism spectrum disorders (ASD) comprise a group of complex neurodevelopmental disorders that affect communication and social interactions. Over a thousand genes have been associated with ASD, with SCN2A standing out due to its critical role in neuronal function and development. Induced pluripotent stem cells (iPSCs) derived from individuals with ASD have become invaluable in vitro models for investigating the cellular and molecular mechanisms underlying the disorder. In this study, we generated and characterized four iPSC clones from peripheral blood mononuclear cells (PBMCs) of two ASD patients carrying loss-of-function variants in the SCN2A gene. These iPSC lines underwent comprehensive characterization through multiple assays. Reverse transcription polymerase chain reaction (RT-PCR), flow cytometry, and immunofluorescence analyses confirmed the presence of pluripotency markers. An embryoid body formation assay demonstrated their potential to differentiate into the three germ layers. Sequencing analysis confirmed the SCN2A variants, while short tandem repeat (STR) analysis authenticated the cell lines, and karyotype analysis ensured chromosomal integrity. The iPSCs exhibited typical morphologic characteristics, including large nuclei with prominent nucleoli, a high nucleus-to-cytoplasm ratio, densely packed cells, and well-defined borders. These cells maintained pluripotency markers, demonstrated the ability to differentiate into the three germ layers, and showed a normal karyotype. Furthermore, we successfully generated cerebral organoids from these cells. Our study establishes a robust platform for further exploration of the pathophysiological mechanisms of ASD, particularly those involving SCN2A.
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH