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...

Descripción completa

Detalles Bibliográficos
Autores principales: Sripathy, S.R., Wang, Y., Moses, R.L., Fatemi, A., Batista, D.A., Maher, B.J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592084/
https://www.ncbi.nlm.nih.gov/pubmed/32971458
http://dx.doi.org/10.1016/j.scr.2020.102001
_version_ 1783601124513677312
author Sripathy, S.R.
Wang, Y.
Moses, R.L.
Fatemi, A.
Batista, D.A.
Maher, B.J.
author_facet Sripathy, S.R.
Wang, Y.
Moses, R.L.
Fatemi, A.
Batista, D.A.
Maher, B.J.
author_sort Sripathy, S.R.
collection PubMed
description 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.
format Online
Article
Text
id pubmed-7592084
institution National Center for Biotechnology Information
language English
publishDate 2020
record_format MEDLINE/PubMed
spelling pubmed-75920842020-10-28 Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome Sripathy, S.R. Wang, Y. Moses, R.L. Fatemi, A. Batista, D.A. Maher, B.J. Stem Cell Res Article 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. 2020-09-17 2020-10 /pmc/articles/PMC7592084/ /pubmed/32971458 http://dx.doi.org/10.1016/j.scr.2020.102001 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/BY-NC-ND/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Sripathy, S.R.
Wang, Y.
Moses, R.L.
Fatemi, A.
Batista, D.A.
Maher, B.J.
Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome
title Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome
title_full Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome
title_fullStr Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome
title_full_unstemmed Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome
title_short Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome
title_sort generation of 10 patient-specific induced pluripotent stem cells (ipscs) to model pitt-hopkins syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592084/
https://www.ncbi.nlm.nih.gov/pubmed/32971458
http://dx.doi.org/10.1016/j.scr.2020.102001
work_keys_str_mv AT sripathysr generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome
AT wangy generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome
AT mosesrl generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome
AT fatemia generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome
AT batistada generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome
AT maherbj generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome

Ejemplares similares