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Article

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

Stem cell research - 1 Aug 2026

Secula Samira, Erkilic Nejla, Obringer Cathy, Jaeger Catherine, Leuvrey Anne Sophie, Muller Jean, Kalatzis Vasiliki, Dollfus Hélène

Abstract excerpt

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...

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Identifiers

PMID: 42035521
DOI: 10.1016/j.scr.2026.103990

Genes

ALMS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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