ID   FDZSi001-A
AC   CVCL_QX59
SY   HKLDS-iPSC
DR   BioSamples; SAMEA104012356
DR   hPSCreg; FDZSi001-A
DR   Wikidata; Q54834711
RX   PubMed=28395736;
CC   From: Zhongshan Hospital of Fudan University; Shanghai; China.
CC   Sequence variation: Mutation; HGNC; 11773; TGFBR2; Simple; p.Arg193Trp (c.577C>T); ClinVar=VCV000213941; Zygosity=Heterozygous (PubMed=28395736).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114768; Loeys-Dietz syndrome type 2
DI   ORDO; Orphanet_60030; Loeys-Dietz syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 9
//
RX   PubMed=28395736; DOI=10.1016/j.scr.2017.03.012;
RA   Hu K., Li J., Zhu K., Chen J.-M., Liu D.-Q., Wang Y.-L., Sun Y.-X.,
RA   Lai H., Wang C.-S.;
RT   "Generation of an induced pluripotent stem cell line from a
RT   Loeys-Dietz syndrome patient with transforming growth factor-beta
RT   receptor-2 gene mutation.";
RL   Stem Cell Res. 20:115-117(2017).
//