Cargando…
Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers
Waardenburg syndrome type 1 (WS1), a rare genetic disease characterized by pigmentation defects and mild craniofacial anomalies often associated with congenital deafness is caused by heterozygous mutations in the PAX3 gene (2q36.1). We have generated two induced pluripotent stem cell lines (PCli029-...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240564/ https://www.ncbi.nlm.nih.gov/pubmed/36989619 http://dx.doi.org/10.1016/j.scr.2023.103074 |
_version_ | 1785053790336974848 |
---|---|
author | Alkobtawi, Mansour Pla, Patrick Onteniente, Brigitte Seal, Subham Pingault, Véronique Marlin, Sandrine Monsoro-Burq, Anne H. |
author_facet | Alkobtawi, Mansour Pla, Patrick Onteniente, Brigitte Seal, Subham Pingault, Véronique Marlin, Sandrine Monsoro-Burq, Anne H. |
author_sort | Alkobtawi, Mansour |
collection | PubMed |
description | Waardenburg syndrome type 1 (WS1), a rare genetic disease characterized by pigmentation defects and mild craniofacial anomalies often associated with congenital deafness is caused by heterozygous mutations in the PAX3 gene (2q36.1). We have generated two induced pluripotent stem cell lines (PCli029-A and PCli031-A) from two patients from the same family both carrying the same heterozygous deletion in PAX3 exon 1 (c.-70_85 + 366del). These cells are pluripotent as they can differentiate into ectoderm, mesoderm and endoderm. They also can activate the early neural crest marker SNAI2. These cells will be useful for studying the human neural crest-derived pigment cells. |
format | Online Article Text |
id | pubmed-10240564 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-102405642023-06-06 Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers Alkobtawi, Mansour Pla, Patrick Onteniente, Brigitte Seal, Subham Pingault, Véronique Marlin, Sandrine Monsoro-Burq, Anne H. Stem Cell Res Lab Resource: Multiple Cell Lines Waardenburg syndrome type 1 (WS1), a rare genetic disease characterized by pigmentation defects and mild craniofacial anomalies often associated with congenital deafness is caused by heterozygous mutations in the PAX3 gene (2q36.1). We have generated two induced pluripotent stem cell lines (PCli029-A and PCli031-A) from two patients from the same family both carrying the same heterozygous deletion in PAX3 exon 1 (c.-70_85 + 366del). These cells are pluripotent as they can differentiate into ectoderm, mesoderm and endoderm. They also can activate the early neural crest marker SNAI2. These cells will be useful for studying the human neural crest-derived pigment cells. Elsevier 2023-06 /pmc/articles/PMC10240564/ /pubmed/36989619 http://dx.doi.org/10.1016/j.scr.2023.103074 Text en © 2023 The Authors 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/). |
spellingShingle | Lab Resource: Multiple Cell Lines Alkobtawi, Mansour Pla, Patrick Onteniente, Brigitte Seal, Subham Pingault, Véronique Marlin, Sandrine Monsoro-Burq, Anne H. Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers |
title | Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers |
title_full | Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers |
title_fullStr | Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers |
title_full_unstemmed | Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers |
title_short | Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers |
title_sort | two induced pluripotent stem cell (ipsc) lines derived from patients affected by waardenburg syndrome type 1 retain potential to activate neural crest markers |
topic | Lab Resource: Multiple Cell Lines |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240564/ https://www.ncbi.nlm.nih.gov/pubmed/36989619 http://dx.doi.org/10.1016/j.scr.2023.103074 |
work_keys_str_mv | AT alkobtawimansour twoinducedpluripotentstemcellipsclinesderivedfrompatientsaffectedbywaardenburgsyndrometype1retainpotentialtoactivateneuralcrestmarkers AT plapatrick twoinducedpluripotentstemcellipsclinesderivedfrompatientsaffectedbywaardenburgsyndrometype1retainpotentialtoactivateneuralcrestmarkers AT ontenientebrigitte twoinducedpluripotentstemcellipsclinesderivedfrompatientsaffectedbywaardenburgsyndrometype1retainpotentialtoactivateneuralcrestmarkers AT sealsubham twoinducedpluripotentstemcellipsclinesderivedfrompatientsaffectedbywaardenburgsyndrometype1retainpotentialtoactivateneuralcrestmarkers AT pingaultveronique twoinducedpluripotentstemcellipsclinesderivedfrompatientsaffectedbywaardenburgsyndrometype1retainpotentialtoactivateneuralcrestmarkers AT marlinsandrine twoinducedpluripotentstemcellipsclinesderivedfrompatientsaffectedbywaardenburgsyndrometype1retainpotentialtoactivateneuralcrestmarkers AT monsoroburqanneh twoinducedpluripotentstemcellipsclinesderivedfrompatientsaffectedbywaardenburgsyndrometype1retainpotentialtoactivateneuralcrestmarkers |