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.
Original language | English (US) |
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Article number | 102001 |
Journal | Stem Cell Research |
Volume | 48 |
DOIs | |
State | Published - Oct 2020 |
Keywords
- Autism Spectrum Disorder (ASD)
- Induced pluripotent stem cells (iPSCs)
- Pitt-hopkins syndrome
- Transcription factor 4 (TCF4)
ASJC Scopus subject areas
- Developmental Biology
- Cell Biology