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

doi:10.1016/j.scr.2020.102001

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

Stem Cell Res. 2020 Oct:48:102001. doi: 10.1016/j.scr.2020.102001. Epub 2020 Sep 17.

Authors

S R Sripathy¹, Y Wang¹, R L Moses¹, A Fatemi², D A Batista³, B J Maher⁴

Affiliations

¹ Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USA.
² Departments of Neurology and Pediatrics, The Kennedy Krieger Institute, and Johns Hopkins University School of Medicine, MD, USA.
³ Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
⁴ 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.

Abstract

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.

Keywords: Autism Spectrum Disorder (ASD); Induced pluripotent stem cells (iPSCs); Pitt-hopkins syndrome; Transcription factor 4 (TCF4).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Autism Spectrum Disorder* / genetics
Facies
Humans
Hyperventilation / genetics
Induced Pluripotent Stem Cells*
Intellectual Disability

Supplementary concepts

Pitt-Hopkins syndrome

Abstract

Publication types

MeSH terms

Supplementary concepts

Grants and funding