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