Cellosaurus cell line SJTUGHi003-A (CVCL

Cross-references
Cell line name	SJTUGHi003-A
Accession	CVCL_D6NN
Resource Identification Initiative	To cite this cell line use: SJTUGHi003-A (RRID:CVCL_D6NN)
Comments	From: Shanghai Jiao Tong University School of Medicine, Shanghai General Hospital; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 11822; TIMP3; Simple; p.Glu162Lys (c.484G>A); ClinVar=VCV001511267; Zygosity=Heterozygous (PubMed=38640637).
Disease	Sorsby fundus dystrophy (NCIt: C206110) Sorsby pseudoinflammatory fundus dystrophy (ORDO: Orphanet_59181)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	40Y
Category	Induced pluripotent stem cell
Publications	PubMed=38640637; DOI=10.1016/j.scr.2024.103423 Zhu X.-Y., Tang L., Zhang T., Bai X.-Y., Chen J.-Q., Zhang L., Gong Y.-Y., Jiang M., Sun X.-D. Generation of an induced pluripotent stem cell line (SJTUGHi003-A) from a patient with Sorsby fundus dystrophy carrying c.484G>A mutation in TIMP3 gene. Stem Cell Res. 77:103423-103423(2024)
Cell line databases/resources	hPSCreg; SJTUGHi003-A
Biological sample resources	BioSamples; SAMEA115084141
Entry history
Entry creation	10-Sep-2024
Last entry update	10-Sep-2024
Version number	1