Cellosaurus cell line HUBUi003-A (CVCL

Cross-references
Cell line name	HUBUi003-A
Accession	CVCL_A2EL
Resource Identification Initiative	To cite this cell line use: HUBUi003-A (RRID:CVCL_A2EL)
Comments	From: Hubei University; Hubei; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:3052; DSP; Simple; p.Arg1873Cys (c.5617C>T); ClinVar=VCV000222581; Zygosity=Heterozygous (PubMed=32942234).
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	32Y
Category	Induced pluripotent stem cell
Publications	PubMed=32942234; DOI=10.1016/j.scr.2020.101977 Shu-Tao Xia, Xv-Dong Wang, Peng Yue, Yi-Fei Li, Dong-Hui Zhang; Establishment of induced pluripotent stem cell lines from a family of an ARVC patient receiving heart transplantation in infant age carrying compound heterozygous mutations in DSP gene. Stem Cell Res. 48:101977-101977(2020)
Cell line databases/resources	hPSCreg; HUBUi003-A
Encyclopedic resources	Wikidata; Q105509538
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5