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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.

The mechanism of rearrangement of 1-(substituted phenyl)-1,3-dimethoxy-2-propanones to give substituted benzylglyoxal dimethyl acetals ( 5 ) was studied by kinetic measurements, by the effects of acid catalysis, by rearangements in the absence of acid and in the presence of base, by solvent effects, by effects of temperature, and by mass spectroscopy. It is concluded that the title ketones rearrange by a sigmatropic rather than an S n 1′ allylic shift.