Generation of human induced pluripotent stem cell lines HUJIi004 and HUJIi005 from two individuals carrying autosomal-dominant mutations in the CTNBB1 gene resulting in CTNNB1 neurodevelopmental disorder.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Rami I Aqeilan, Bruria Ben-Zeev, Kian Maroun, Srinivasarao Repudi, Daniel J Steinberg

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Stem cell research , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 89321

Insufficient β-catenin gene activity leads to CTNNB1 neurodevelopmental disorder (CTNNB1-NDD), a prevalent condition causing diverse neurological effects. We derived induced pluripotent stem cell (iPSC) lines from two CTNNB1-NDD individuals. Comprehensive analysis, including karyotyping, sequencing, and functional assays, verified the stem cell properties, genomic stability, identity, and differentiation capabilities. Notably, variable protein expression levels were observed, hinting at potential functional irregularities. in this study we offer valuable groundwork for future research in the field.
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