Generation of an induced pluripotent stem cell line from an Alström syndrome patient with biallelic ALMS1 pathogenic
Samira Secula1, Nejla Erkilic2, Cathy Obringer1
1Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France.
Abstract:
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.[2822T>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.
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