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...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2020-10-01
|
| Series: | Stem Cell Research |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120303020 |
| _version_ | 1819266540683395072 |
|---|---|
| author | S.R. Sripathy Y. Wang R.L. Moses A. Fatemi D.A. Batista B.J. Maher |
| author_facet | S.R. Sripathy Y. Wang R.L. Moses A. Fatemi D.A. Batista B.J. Maher |
| author_sort | S.R. Sripathy |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-23T21:02:54Z |
| format | Article |
| id | doaj.art-6e9790653eda4dff80d3e110a30fad2d |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-23T21:02:54Z |
| publishDate | 2020-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-6e9790653eda4dff80d3e110a30fad2d2022-12-21T17:31:19ZengElsevierStem Cell Research1873-50612020-10-0148102001Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins SyndromeS.R. Sripathy0Y. Wang1R.L. Moses2A. Fatemi3D.A. Batista4B.J. Maher5Lieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USALieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USALieber Institute for Brain Development, Johns Hopkins Medical Campus, Baltimore, MD, USADepartments of Neurology and Pediatrics, The Kennedy Krieger Institute, and Johns Hopkins University School of Medicine, MD, USADepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USALieber 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)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.http://www.sciencedirect.com/science/article/pii/S1873506120303020Induced pluripotent stem cells (iPSCs)Pitt-hopkins syndromeTranscription factor 4 (TCF4)Autism Spectrum Disorder (ASD) |
| spellingShingle | S.R. Sripathy Y. Wang R.L. Moses A. Fatemi D.A. Batista B.J. Maher Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome Stem Cell Research Induced pluripotent stem cells (iPSCs) Pitt-hopkins syndrome Transcription factor 4 (TCF4) Autism Spectrum Disorder (ASD) |
| 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 | Induced pluripotent stem cells (iPSCs) Pitt-hopkins syndrome Transcription factor 4 (TCF4) Autism Spectrum Disorder (ASD) |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120303020 |
| work_keys_str_mv | AT srsripathy generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome AT ywang generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome AT rlmoses generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome AT afatemi generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome AT dabatista generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome AT bjmaher generationof10patientspecificinducedpluripotentstemcellsipscstomodelpitthopkinssyndrome |