Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder

Germline missense mutations in the BAF swi/snf chromatin remodeling subunit SMARCA4 are associated with neurodevelopmental disorders, including Coffin Siris Syndrome (CSS). Here, we generated an induced pluripotent stem cell line from a male patient with atypical CSS features and a de novo heterozyg...

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Detalles Bibliográficos
Autores principales: Devito, Liani G., Healy, Lyn, Mohammed, Shehla, Guillemot, Francois, Dias, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164104/
https://www.ncbi.nlm.nih.gov/pubmed/33799280
http://dx.doi.org/10.1016/j.scr.2021.102304

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164104/
https://www.ncbi.nlm.nih.gov/pubmed/33799280
http://dx.doi.org/10.1016/j.scr.2021.102304

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