Cellosaurus cell line SHETi002-A (CVCL

Cross-references
Cell line name	SHETi002-A
Accession	CVCL_A1TE
Resource Identification Initiative	To cite this cell line use: SHETi002-A (RRID:CVCL_A1TE)
Comments	From: Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University; Shanghai; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2511; CTNNA3; Simple; p.Met737Ile (c.2211G>C); ClinVar=VCV000643288; Zygosity=Heterozygous (PubMed=33497884).
Disease	Familial arrhythmogenic right ventricular dysplasia 13 (NCIt: C176008) 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	14Y
Category	Induced pluripotent stem cell
Publications	PubMed=33497884; DOI=10.1016/j.scr.2021.102183 Hou C.-L., Liu W., Xie L.-J., Zheng J.-M., Chen X.-N., Sun X.-M., Zhang Y.-W., Xu M., Li Y., Xiao T.-T. Generation of an induced pluripotent stem cell line from a Chinese Han child with arrhythmia. Stem Cell Res. 51:102183-102183(2021)
Cell line databases/resources	hPSCreg; SHETi002-A
Biological sample resources	BioSamples; SAMEA7683807
Encyclopedic resources	Wikidata; Q105511078
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5