Autosomal dominant mutations in transcription factor 4 (TCF4) are associated with a rare syndromic form of Autism Spectrum Disorder (ASD) called Pitt-Hopkins Syndrome (PTHS). Here, we report the generation of a collection of induced pluripotent stem cells (iPSCs) from 5 patients diagnosed with PTHS and 5 familial controls. These patient-derived iPSCs contain a variety of mutations within the TCF4 gene, possess a normal karyotype and express all the appropriate pluripotent stem cell markers. These novel patient lines will be a useful resource for the research community to study PTHS and the function of TCF4.

中文翻译：

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生成10个患者特异性诱导多能干细胞（iPSC）以模拟Pitt-Hopkins综合征

转录因子4（TCF4）中的常染色体显性突变与一种罕见的自闭症谱系障碍（ASD）症状形式，称为皮特-霍普金斯综合症（PTHS）相关。在这里，我们报告了从5名被诊断患有PTHS的患者和5个家族性对照中产生的诱导多能干细胞（iPSC）集合的情况。这些患者来源的iPSC在TCF4基因内包含多种突变，具有正常的核型，并表达所有适当的多能干细胞标记。这些新颖的患者系列将成为研究界研究PTHS和TCF4功能的有用资源。