ID   PUMCHi006-A
AC   CVCL_A4EL
DR   hPSCreg; PUMCHi006-A
DR   Wikidata; Q105510616
RX   PubMed=33221675;
CC   From: Peking Union Medical College Hospital; Beijing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 9603; PTGIS; Simple; p.Ala447Thr (c.1339G>A); dbSNP=rs146531327; Zygosity=Heterozygous (PubMed=33221675).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C121945; Heritable pulmonary arterial hypertension
DI   ORDO; Orphanet_275777; Heritable pulmonary arterial hypertension
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33221675; DOI=10.1016/j.scr.2020.102088;
RA   Zhu Y.-J., Zhang S.-J., Wu X.-H., Lian T.-Y., He Y.-Z., Zhang Z.-J.,
RA   Lu D., Sun K., Wang H.-F., Jing Z.-C.;
RT   "Generation of an induced pluripotent stem cell line (PUMCHi006-A)
RT   derived from a patient with pulmonary arterial hypertension carrying
RT   heterozygous c.1339 G > A mutation in PTGIS gene.";
RL   Stem Cell Res. 49:102088-102088(2020).
//