Cargando…

Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of progressive ossification of skeletal muscle, fascia, tendons, and ligaments. Most FOP cases are caused by a heterozygous c. 617G > A mutation in the ACVR1 gene which encodes a gain-of-function of bone morphogenet...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Xiuli, Roeder, Amanda, Li, Rong, Beers, Jeanette, Liu, Chengyu, Zou, Jizhong, Yu, Paul B., Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9428929/
https://www.ncbi.nlm.nih.gov/pubmed/34139597
http://dx.doi.org/10.1016/j.scr.2021.102424