Table 3.

PAH patient characteristics

ID	Affected gene	Mutation		Type of mutation	Domain	Age	Gender	PAPm (mmHg)	NYHA Functional class	Therapies/diagnosis (for CTL)
MUT-P1	ACVRL1	c.955G>C	p.Gly319Arg	Missense	Kinase	14	Female	90	IV	Bosentan, sildenafil, treprostinil
MUT-P2	ACVRL1	c.1450C>T	p.Arg484Trp	Missense	Kinase	19	Female	100	II	Bosentan, sildenafil, epoprostenol
MUT-P3	BMPR2	del exon 11-13		Large deletion	Kinase + cytoplasmic tail	37	Female	74	IV	Bosentan, sildenafil, treprostinil
MUT-P4	BMPR2	c.314+3A>T		Splice site	Extracellular	14	Female		II	Bosentan
MUT-P5	BMPR2	c.901T>C	p.Ser301Pro	Missense	Kinase	26	Female	99	IV	None, transplanted immediately upon diagnosis
CTL-P1	–	–	–	–	–	80	Male	–	–	Carcinoma
CTL-P2	–	–	–	–	–	57	Female	–	–	Invasive carcinoma
CTL-P3	–	–	–	–	–	68	Male	–	–	Epidermoid carcinoma

List of ALK1- and BMPR2-mutated HMVECs that were isolated from explanted lungs of PAH patients, indicating the carried mutation, the type of mutation and the mutated or deleted ALK1 or BMPR2 domain, in addition to some characteristics and treatments of the patient. Control lung specimens were obtained from normal tissue collected at a distance from tumors from patients with localized lung cancer. The age, gender and diagnosis of the individuals were specified

PAPm mean pulmonary arterial pressure, NYHA New York Heart Association