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


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 differentiated into cells of three embryonic germ layer. These AS mutant and isogenic iPSC control line will be of great use in investigating the disease mechanisms, drug screening and treatment in patients. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Ji X, Tang Q, Tang C, Wu Z, Ma L, Guo X, Cheng G, Chen Y, Yang T, Xiong M, Zhou W
Journal Stem cell research
Publication Date 2020 Dec;49:102089
PubMed 33264725
DOI 10.1016/j.scr.2020.102089

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