ID   ICSSUi002-A
AC   CVCL_B5IM
DR   BioSamples; SAMEA13061469
DR   hPSCreg; ICSSUi002-A
DR   Wikidata; Q110432918
RX   PubMed=35305471;
CC   From: Institute for Cardiovascular Science of Soochow University; Suzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Homozygous (PubMed=35305471).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C50461; Aortic dissection
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35305471; DOI=10.1016/j.scr.2022.102753;
RA   Zhu J.-Z., Chen Y.-H., Cao X.-Y., Li Q., Shao L.-B., Teng X.-M., Yu Y.,
RA   Shen Z.-Y.;
RT   "Generation of a human iPSC (ICSSUi002-A) with MTHFR SNP (rs1801133,
RT   TT) from thoracic aortic dissection patient.";
RL   Stem Cell Res. 61:102753-102753(2022).
//