Cellosaurus cell line ZZUNEUi020-A (CVCL

Cross-references
Cell line name	ZZUNEUi020-A
Synonyms	MYH7-R719Q-iPSC
Accession	CVCL_A4UN
Resource Identification Initiative	To cite this cell line use: ZZUNEUi020-A (RRID:CVCL_A4UN)
Comments	From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China. Population: Chinese; Han. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:7577; MYH7; Simple; p.Arg719Gln (c.2156G>A); ClinVar=VCV000014107; Zygosity=Heterozygous (PubMed=33453578).
Disease	Familial hypertrophic cardiomyopathy type 1 (NCIt: C172092) Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	15Y
Category	Induced pluripotent stem cell
Publications	PubMed=33453578; DOI=10.1016/j.scr.2021.102158 Li X.-W., Fu W.-R., Guo G.-L., Liu M.-D., Du W.-T., Zhao J., Liu Y.-Y., Wang L., Dong J.-Z., Zhao X.-Y. A heterozygous MYH7 (c. 2156G > A) mutant human induced pluripotent stem cell line (ZZUNEUi020-A) generated from a patient with hypertrophic cardiomyopathy. Stem Cell Res. 51:102158-102158(2021)
Cell line databases/resources	hPSCreg; ZZUNEUi020-A
Encyclopedic resources	Wikidata; Q107117588
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	5