Article
Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line.
Stem cell research - 1 Dec 2020
Ji Xiaoli, Tang Qingyuan, Tang Chuanqing, Wu Ziyan, Ma Ling, Guo Xiaohong, Cheng Guoqiang, Chen Yuejun, Yang Tong, Xiong Man, Zhou Wenhao
Abstract excerpt
To develop a disease model for the human Alström Syndrome (AS), we used the episomal reprogramming system and CRISPR/Cas9 technology to generate an induced pluripotent stem cell (iPSC) line with the compound heterozygous patient mutation (ALMS1 c.3902C > A, c.6436C > T) along with an isogenic gene-corrected control iPSC line. Both iPSC lines showed normal karyotype, expressed pluripotent markers, and...
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