ID   ZJUi007-A
AC   CVCL_A8NW
DR   hPSCreg; ZJUi007-A
DR   Wikidata; Q108821562
RX   PubMed=34365103;
CC   From: The First Affiliated Hospital of Zhejiang University School of Medicine; Hangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 4296; GLA; Simple; p.Trp47Ter (c.140G>A); Zygosity=Hemizygous (PubMed=34365103).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84701; Fabry disease
DI   ORDO; Orphanet_324; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34365103; DOI=10.1016/j.scr.2021.102475;
RA   Zhu Y.-Q., Zhang L., Wang G., Zhao J., Hou X.-L., Wu H.-D., Xu Y.-M.,
RA   Mao J.-H., Liu Z.-H., Zhang J.;
RT   "Generation of an induced pluripotent stem cell line (ZJUi007-A) from
RT   a 11-year-old patient of Fabry disease.";
RL   Stem Cell Res. 55:102475-102475(2021).
//