ID   FPAH-3 UMC
AC   CVCL_A4MH
SY   FPAH-UMC-3; FPAH family-3 Unaffected Mutation Carrier
DR   SKIP; SKIP002958
DR   Wikidata; Q105506914
RX   PubMed=28017794;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1078; BMPR2; Simple; p.Cys117Tyr (c.350G>A); ClinVar=VCV000425766; Zygosity=Unspecified (PubMed=28017794).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=28017794; DOI=10.1016/j.stem.2016.08.019; PMCID=PMC5500296;
RA   Gu M.-X., Shao N.-Y., Sa S.-L., Li D., Termglinchan V., Ameen M.,
RA   Karakikes I., Sosa G., Grubert F., Lee J., Cao A.-Q., Taylor S., Ma Y.,
RA   Zhao Z.-X., Chappell J., Hamid R., Austin E.D., Gold J.D., Wu J.C.,
RA   Snyder M.P., Rabinovitch M.;
RT   "Patient-specific iPSC-derived endothelial cells uncover pathways that
RT   protect against pulmonary hypertension in BMPR2 mutation carriers.";
RL   Cell Stem Cell 20:490-504.e5(2017).
//