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.

Xiuli Huang, Amanda Roeder, Rong Li, Jeanette Beers, Chengyu Liu, Jizhong Zou, Paul B Yu, Wei Zheng

Stem cell research 2021 Jul

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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.

Citation

Xiuli Huang, Amanda Roeder, Rong Li, Jeanette Beers, Chengyu Liu, Jizhong Zou, Paul B Yu, Wei Zheng. 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. Stem cell research. 2021 Jul;54:102424