ID   EHTJUi002-A
AC   CVCL_YT19
SY   DF-GMP-ZB11AR-H
DR   BioSamples; SAMEA6703336
DR   hPSCreg; EHTJUi002-A
DR   Wikidata; Q93539315
RX   PubMed=32889247;
CC   From: East Hospital Affiliated to Tongji University; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 4042; FZD4; Simple; p.Trp226Ter (c.678G>A); ClinVar=VCV000940196; Zygosity=Heterozygous (PubMed=32889247).
CC   Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
DI   NCIt; C175048; Exudative vitreoretinopathy 1
DI   ORDO; Orphanet_891; Familial exudative vitreoretinopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32889247; DOI=10.1016/j.scr.2020.101932;
RA   Lu J.-Z., Zhang L., Zhu H.-Y., Qi Y.-Y., Bai Z.-H., Jia W.-W.,
RA   Liu Z.-M.;
RT   "An induced pluripotent stem cell line (EHTJUi002-A) derived from a
RT   neonate with c.678G>A mutation in the gene FZD4 causing exudative
RT   vitreoretinopathy.";
RL   Stem Cell Res. 48:101932-101932(2020).
//