In 2001,Dr.Zhi-Cheng Jing encountered a pulmonary arterial hypertension(PAH)patient from a large pedigree.Dr.Jing collected the clinical information and blood samples from this pedigree and was the first to report the pedigree of familial PAH in China[1].In 2004,this pedigree was confirmed to carry a mutation in BMPR2(Arg491Trp),which was the first evidence of pathogenicity of BMPR2 mutation in the Chinese population[2].Over the next 20 years,their clinical data and specimens were collected during regular follow-up visits.In 2016,the germline genetic information of this pedigree was examined via whole genome sequencing(WGS).Proteomic and metabolomic profiling were also investi-gated.Inspiringly,the patient's peripheral blood mononuclear cells were successfully induced into induced pluripotent stem cells(iPSCs)two years later and further differentiated into endothelial cells and cardiomyocytes.The BMPR2 Arg491Trp mutation knock-in rat PAH model was also constructed.The comprehensive clinical data and blood samples from the pedigree at baseline and during follow-ups,multi-omics data,and research tools allow for a better understanding of the pathophysiology of PAH and are beneficial to the development of novel therapeutic strategies against PAH,espe-cially for this pedigree.

The Medical Science Research Center,Peking Union Medical College Hospital,Peking Union Medical College and Chinese Academy of Medical Sciences,Beijing 100730,China;Heart Center and Shanghai Institute of Pediatric Congenital Heart Disease,Shanghai Children's Medical Center,National Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200127,China;The Department of Cardiology,Peking Union Medical College Hospital,Peking Union Medical College and Chinese Academy of Medical Sciences,Beijing 100730,China;McKusick-Zhang Center for Genetic Medicine,State Key Laboratory of Medical Molecular Biology,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China

[1]Tian-Yu Lian;Yi Yan;Dong Ding;Yue-Jiao Ma;Xue Zhang;Zhi-Cheng Jing-.Building a modern six-dimensional biobank fosters the future of precision medicine)[J].科学通报（英文版）,2022(24):2490-2493

Arg491Trp,Inspiringly

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