Cellosaurus cell line ZZUNEUi013-A (CVCL

Cross-references
Cell line name	ZZUNEUi013-A
Synonyms	MYH6-G3755A-iPSC
Accession	CVCL_A9YL
Resource Identification Initiative	To cite this cell line use: ZZUNEUi013-A (RRID:CVCL_A9YL)
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:7576; MYH6; Simple; p.Arg1252Gln (c.3755G>A); dbSNP=rs759454361; Zygosity=Heterozygous (PubMed=33385793).
Disease	Familial hypertrophic cardiomyopathy type 14 (NCIt: C176899) Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	41Y
Category	Induced pluripotent stem cell
Publications	PubMed=33385793; DOI=10.1016/j.scr.2020.102138 Wang L., Li X.-W., Fu W.-R., Zhang S., Du W.-T., Zhao J., Liu M.-D., Wang M.-Y., Liu Y.-Y., Hu L., Ding Z.-R., Li L., Zhao X.-Y., Dong J.-Z. Generation of an IPSC line from a patient with hypertrophic cardiomyopathy carrying a mutation in MYH6 gene. Stem Cell Res. 50:102138-102138(2021)
Cell line databases/resources	hPSCreg; ZZUNEUi013-A
Encyclopedic resources	Wikidata; Q102115163
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	6