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

S.R. Sripathy; Y. Wang; R.L. Moses; A. Fatemi; D.A. Batista; B.J. Maher

Stem Cell Research (Oct 2020)

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

S.R. Sripathy,
Y. Wang,
R.L. Moses,
A. Fatemi,
D.A. Batista,
B.J. Maher

Affiliations

S.R. Sripathy: Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA
Y. Wang: Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA
R.L. Moses: Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA
A. Fatemi: Departments of Neurology and Pediatrics, The Kennedy Krieger Institute, and Johns Hopkins University School of Medicine, MD, USA
D.A. Batista: Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
B.J. Maher: Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Corresponding author: Lieber Institute for Brain Development, Baltimore, MD, USA. (B.J. Maher)

Journal volume & issue: Vol. 48
p. 102001

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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Abstract

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