Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control

Pontocerebellar Hypoplasia 1B (PCH1B) is a severe autosomal recessive neurological disorder that is associated with mutations in the exosome complex component RRP40 (EXOSC3) gene. We generated and characterized an iPSC line from an individual with PCH1B that harbors a recessive homozygous c.395 A &g...

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Detalles Bibliográficos
Autores principales: Stansfield, Ben N., Rangasamy, Sampath, Ramsey, Keri, Khanna, May, Churko, Jared M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9729447/
https://www.ncbi.nlm.nih.gov/pubmed/36257093
http://dx.doi.org/10.1016/j.scr.2022.102944

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9729447/
https://www.ncbi.nlm.nih.gov/pubmed/36257093
http://dx.doi.org/10.1016/j.scr.2022.102944

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