Generation of an induced pluripotent stem cell line from an Alström syndrome patient with biallelic ALMS1 pathogenic variants

We report on the generation of the human iPSC line (ALMS1-STBG-1) from a patient with Alström syndrome with compound heterozygote pathogenic variants in ALMS1 : c.[2822 T > A];[4714_4715dup], p.[(Leu941*)];[(Ser1573Thrfs*25)]. The reprogramming of primary human dermal fibroblasts was performed using the non-integrative Sendai virus method and the OSKM transcription factor cocktail. The generated ALMS1-STBG-1 iPSC line can differentiate into the three embryonic germ layers, and is genetically stable. This iPSC line represents a valuable tool for understanding the pathophysiology associated with Alström syndrome variants.