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
Summary
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 morphogenetic protein type I receptor. A human induced pluripotent stem cell (iPSC) line was generated from the dermal skin fibroblasts of a FOP patient who carries the c. 617G > A mutation in the ACVR1 gene. This iPSC line provides an attractive resource for FOP disease modeling. Published by Elsevier B.V.
| Authors | Huang X, Roeder A, Li R, Beers J, Liu C, Zou J, Yu PB, Zheng W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Jul;54:102424 |
| PubMed | 34139597 |
| PubMed Central | PMC9428929 |
| DOI | 10.1016/j.scr.2021.102424 |