- 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.
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 (2021-06-18)
Xiuli Huang, Amanda Roeder, Rong Li, Jeanette Beers, Chengyu Liu, Jizhong Zou, Paul B Yu, Wei Zheng
PMID34139597
摘要
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.
材料
产品编号
品牌
产品描述
Sigma-Aldrich
Milli-Mark® Anti-Nanog-Alexa Fluor 488 Antibody, NT, Milli-Mark®, from rabbit