ID   GDSRMi001-A
AC   CVCL_C7RF
SY   iPSC-ZPR-4-P10; JD3415; JD-3415
DR   hPSCreg; GDSRMi001-A
DR   Wikidata; Q117704342
RX   PubMed=36868039;
CC   From: Guangdong Provincial People's Hospital; Guangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 25636; MCTP2; Simple; p.Ter879Gluext (c.2635T>G); Zygosity=Homozygous (PubMed=36868039).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C50461; Aortic dissection
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   66Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
//
RX   PubMed=36868039; DOI=10.1016/j.scr.2023.103058;
RA   Feng W.-Q., Li C.-X., Li Y., Yang J., Fan R.-X.;
RT   "Generation of an induced pluripotent stem cell line from an aortic
RT   dissection patient carrying MCTP2/c.2635T > G mutation.";
RL   Stem Cell Res. 68:103058-103058(2023).
//