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

Abstract To develop a disease model for the human Alstrom 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.