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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-...

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Detalles Bibliográficos
Autores principales: Alkobtawi, Mansour, Pla, Patrick, Onteniente, Brigitte, Seal, Subham, Pingault, Véronique, Marlin, Sandrine, Monsoro-Burq, Anne H.
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