ID   MHHi023-A
AC   CVCL_A0YQ
SY   PAH Pat. C iPS Clone18; PAH Pat.C Clone18
DR   hPSCreg; MHHi023-A
DR   Wikidata; Q108820913
RX   PubMed=34388490;
CC   From: Hannover Medical School, LEBAO (MHH); Hannover; Germany.
CC   Population: Asian.
CC   Sequence variation: Mutation; HGNC; 1078; BMPR2; Simple; p.Cys84_Ser140del (c.248-1_418+1del171) (Ex3del); Zygosity=Heterozygous (PubMed=34388490).
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   17Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34388490; DOI=10.1016/j.scr.2021.102488;
RA   Usman A., Haase A., Merkert S., Gohring G., Hansmann G., Gall H.,
RA   Schermuly R., Martin U., Olmer R.;
RT   "Generation of pulmonary arterial hypertension patient-specific
RT   induced pluripotent stem cell lines from three unrelated patients with
RT   a heterozygous missense mutation in exon 12, a heterozygous in-frame
RT   deletion in exon 3 and a missense mutation in exon 11 of the BMPR2
RT   gene.";
RL   Stem Cell Res. 55:102488-102488(2021).
//