Cellosaurus cell line EHTJUi002-A (CVCL

Cross-references
Cell line name	EHTJUi002-A
Synonyms	DF-GMP-ZB11AR-H
Accession	CVCL_YT19
Resource Identification Initiative	To cite this cell line use: EHTJUi002-A (RRID:CVCL_YT19)
Comments	From: East Hospital Affiliated to Tongji University; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
Sequence variations	Mutation; HGNC; HGNC:4042; FZD4; Simple; p.Trp226Ter (c.678G>A); ClinVar=VCV000940196; Zygosity=Heterozygous (PubMed=32889247).
Disease	Exudative vitreoretinopathy 1 (NCIt: C175048) Familial exudative vitreoretinopathy (ORDO: Orphanet_891)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	<1D
Category	Induced pluripotent stem cell
Publications	PubMed=32889247; DOI=10.1016/j.scr.2020.101932 Ji-Zhen Lu, Lu Zhang, Han-Yu Zhu, Yi-Yao Qi, Zhi-Hui Bai, Wen-Wen Jia, Zhong-Min Liu; An induced pluripotent stem cell line (EHTJUi002-A) derived from a neonate with c.678G>A mutation in the gene FZD4 causing exudative vitreoretinopathy. Stem Cell Res. 48:101932-101932(2020)
Cell line databases/resources	hPSCreg; EHTJUi002-A
Biological sample resources	BioSamples; SAMEA6703336
Encyclopedic resources	Wikidata; Q93539315
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	7