ID   SJTUGHi003-A
AC   CVCL_D6NN
DR   BioSamples; SAMEA115084141
DR   hPSCreg; SJTUGHi003-A
RX   PubMed=38640637;
CC   From: Shanghai Jiao Tong University School of Medicine, Shanghai General Hospital; Shanghai; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:11822; TIMP3; Simple; p.Glu162Lys (c.484G>A); ClinVar=VCV001511267; Zygosity=Heterozygous (PubMed=38640637).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206110; Sorsby fundus dystrophy
DI   ORDO; Orphanet_59181; Sorsby pseudoinflammatory fundus dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
//
RX   PubMed=38640637; DOI=10.1016/j.scr.2024.103423;
RA   Zhu, Xin-Yue
RA   Tang, Lu
RA   Zhang, Ting
RA   Bai, Xin-Yue
RA   Chen, Jie-Qiong
RA   Zhang, Lei
RA   Gong, Yuan-Yuan
RA   Jiang, Mei
RA   Sun, Xiao-Dong
RT   "Generation of an induced pluripotent stem cell line (SJTUGHi003-A)
RT   from a patient with Sorsby fundus dystrophy carrying c.484G>A
RT   mutation in TIMP3 gene.";
RL   Stem Cell Res. 77:103423-103423(2024).
//