Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome


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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Sripathy SR, Wang Y, Moses RL, Fatemi A, Batista DA, Maher BJ
Journal Stem cell research
Publication Date 2020 Oct;48:102001
PubMed 32971458
PubMed Central PMC7592084
DOI 10.1016/j.scr.2020.102001

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