Cellosaurus cell line EHTJUi004-A (CVCL

Cross-references
Cell line name	EHTJUi004-A
Synonyms	DF-GMP-ZB12AN-I
Accession	CVCL_A8KR
Resource Identification Initiative	To cite this cell line use: EHTJUi004-A (RRID:CVCL_A8KR)
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:3052; DSP; Simple; p.Leu1563Glufs*63 (c.4687_4688delCT) (c.4683_4684delCT); ClinVar=VCV001072470; Zygosity=Heterozygous (PubMed=34087998).
Disease	Arrhythmogenic right ventricular dysplasia (NCIt: C84571) Familial isolated arrhythmogenic ventricular dysplasia, right dominant form (ORDO: Orphanet_293910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	<1D
Category	Induced pluripotent stem cell
Publications	PubMed=34087998; DOI=10.1016/j.scr.2021.102369 Yi-Yao Qi, Ji-Zhen Lu, Lu Zhang, Hong-Xia Cao, Han-Yu Zhu, Zhi-Hui Bai, Shou-Mei Zhang, Zhi-Bin Qiao, Wen-Wen Jia, Zhong-Min Liu; An induced pluripotent stem cell line (EHTJUi004-A) generated from a neonate with c.4683_4684delCT:p.Leu1563fs mutation in the gene DSP causing familial arrhythmogenic right ventricular dysplasia (ARVD). Stem Cell Res. 53:102369-102369(2021)
Cell line databases/resources	hPSCreg; EHTJUi004-A
Biological sample resources	BioSamples; SAMEA8394198
Encyclopedic resources	Wikidata; Q108820184
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6