Table 1.
List of ALK1-mutated ECFCs and HUVECs isolated from HHT donors
| ID | ALK1 mutation | Type of mutation | Domain | Cells isolated | Assays | |
|---|---|---|---|---|---|---|
| MUT-H1 | c.423G>A | p.Trp141X | Nonsense | Transmembrane | ECFC | RNA-seq, RT-qPCR, p-Smad1/5 IF, BLA, FC |
| MUT-H2 | c.838C>G | p.His280Asp | Missense | Kinase | ECFC | RNA-seq, RT-qPCR, p-Smad1/5 IF, BLA, FC |
| MUT-H3 | c.190C>T | p.Gln64X | Nonsense | Extracellular | ECFC/HUVEC | RT-qPCR (ECFC and HUVEC), p-Smad1/5 IF, BLA, FC |
| MUT-H4 | c.1231C>T | p.Arg411Trp | Missense | Kinase | ECFC/HUVEC | RT-qPCR (ECFC and HUVEC), p-Smad1/5 IF, BLA, FC |
| MUT-H5 | c.1112dup | p.Thr372HisfsX20 | Frameshift | Kinase | ECFC/HUVEC | RT-qPCR (ECFC and HUVEC), FC |
| MUT-H6 | c.1413C>G | p.Cys471Trp | Missense | Kinase | ECFC/HUVEC | BLA, FC |
| CTL-H1 | – | – | – | – | ECFC | RNA-seq, RT-qPCR, BLA, FC |
| CTL-H2 | – | – | – | – | ECFC | RNA-seq, RT-qPCR, p-Smad1/5 IF, BLA, FC |
| CTL-H3 | – | – | – | – | ECFC | RNA-seq, RT-qPCR, p-Smad1/5 IF, BLA, FC |
| CTL-H4 | – | – | – | – | ECFC/HUVEC | RT-qPCR (ECFC and HUVEC), p-Smad1/5 IF, BLA, FC |
| CTL-H5 | – | – | – | – | HUVEC | RT-qPCR |
| CTL-H6 | – | – | – | – | HUVEC | RT-qPCR |
List of CTL and ALK1-mutated ECFCs and HUVECs that were isolated from newborns indicating the carried mutation (DNA and protein), the type of mutation, the mutated ALK1 domain and the assays in which they were used
RNA-seq RNA-sequencing, RT-qPCR reverse transcription quantitative polymerase chain reaction, p-Smad1/5 IF phospho-Smad1/5 immunofluorescence, BLA (BRE) BMP responsive element luciferase assay, FC flow cytometry