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Cellosaurus ZZUNEUi013-A (CVCL_A9YL)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; ZZUNEUi013-A
Encyclopedic resources Wikidata; Q102115163
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number5