Generation of the induced pluripotent stem cell line ISMMSi061-A from a patient with ataxia, intention tremor, and hypotonia syndrome, childhood-onset

We have described a novel neurodevelopmental disorder caused by de novo, heterozygous pathogenic variants in the Pou domain, class 4, transcription factor 1 (POU4F1), now termed ataxia, intention tremor, and hypotonia syndrome, childhood-onset (ATITHS). This study reports the generation and characterization of an induced pluripotent stem cell (iPSC) line derived from peripheral blood mononuclear cells of a patient with ATITHS. The resulting iPSC line, ISMMSi061-A, harbors the POU4F1 heterozygous variant c.271_281del;p.(Thr91Hisfs*254). The iPSCs display normal cell morphology, expression of pluripotency markers, normal karyotype, and the ability to differentiate into all three germ layers.