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首页> 外国专利> MUTATION COMPLEX INCLUDING GAIN-OF-FUNCTION MUTANT OF BMPR2 GENE, INDUCED PLURIPOTENT STEM CELLS AND MESENCHYMAL STEM CELLS DERIVED FROM MUTANT, AND USE THEREOF

MUTATION COMPLEX INCLUDING GAIN-OF-FUNCTION MUTANT OF BMPR2 GENE, INDUCED PLURIPOTENT STEM CELLS AND MESENCHYMAL STEM CELLS DERIVED FROM MUTANT, AND USE THEREOF

机译：包括BMPR2基因的函数突变体，诱导多能干细胞和衍生自突变体的间充质干细胞的突变复合物，及其用途

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摘要

Disclosed are a technique in which a particular gene mutation discovered as a novel example of a FOP-like phenotype other than an existing ACVR1-R206H mutation known as a cause of FOP can be applied to the treatment of bone diseases through osteogenic differentiation, and a technique in which the confirmed effect of expressing the gene mutation in combination with the existing ACVR1-R206H mutation can be applied to the treatment of bone diseases through osteogenic differentiation. The present invention provides a mutation complex including: a BMPR2-E376K mutant in which an amino acid at position 376 of BMPR2 gene encoding a bone morphogenetic protein type 2 receptor (BMPR2) has mutated from glutamic acid (E) to lysine (K); and an ACVR1-R206H mutant in which an amino acid at position 206 of ACVR1 gene encoding an activin A type I receptor (ACVR1) has mutated from arginine (R) to histidine (H). The present invention also provides induced pluripotent stem cells reprogrammed from cells including the BMPR2-E376K mutant in which an amino acid at position 376 of BMPR2 gene encoding a bone morphogenetic protein type 2 receptor (BMPR2) has mutated from glutamic acid (E) to lysine (K).
机译：公开了一种技术，其中特定基因突变被发现为除了已知为FOP原因的现有ACVR1-R206H突变以外的FOP样表型的新实例可以应用于通过成骨分化治疗骨疾病，以及a通过表达基因突变与现有的ACVR1-R206H突变组合的确诊效果可以应用于通过骨质发生分化治疗骨疾病。本发明提供了一种突变复合物，包括：BMPR2-E376K突变体，其中编码骨形态发生蛋白2型受体（BMPR2）的BMPR2基因的位置376处的氨基酸从谷氨酸（E）突变为赖氨酸（K）;和ACVR1-R206H突变体，其中编码AcVR1基因的位置206的氨基酸，其编码I型受体（ACVR1）突变从精氨酸（R）到组氨酸（H）。本发明还提供了从包含BMPR2-E376K突变体的细胞重编程的诱导多能干细胞，其中编码骨形态发生蛋白2受体（BMPR2）的BMPR2基因的位置376处的氨基酸从谷氨酸（E）突变到赖氨酸（k）。

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