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

从携带 ACVR1 基因杂合突变 c. 617G > A 的进行性骨化性纤维发育不良 (FOP) 患者中生成诱导性多能干细胞系 (TRNDi012-B)

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

Abstract

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.

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