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Cellosaurus ZJUi011-A (CVCL_C0IL)

[Text version]
Cell line name ZJUi011-A
Synonyms LSYMYH7iPS; LSY-iPSC-C11; ZJULLi003-A
Accession CVCL_C0IL
Resource Identification Initiative To cite this cell line use: ZJUi011-A (RRID:CVCL_C0IL)
Comments From: Zhejiang University School of Medicine; Hangzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7577; MYH7; Simple; p.Glu1462Lys (c.4384G>A); ClinVar=VCV000918880; Zygosity=Heterozygous (PubMed=35944310).
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 Male
Age at sampling 47Y
Category Induced pluripotent stem cell
Publications

PubMed=35944310; DOI=10.1016/j.scr.2022.102883
Zhou J.-J., Sun Y.-X., Wang H.-K., Wang H., Guo F.-F., Chen X.-Z., Gong T.-Y., Jiang C.-Y., Liang P.
Generation of an induced pluripotent stem cell line (ZJULLi003-A) from a hypertrophic cardiomyopathy patient carrying MYH7/c.4384G > A mutation.
Stem Cell Res. 64:102883-102883(2022)

Cross-references
Cell line databases/resources hPSCreg; ZJUi011-A
Biological sample resources BioSamples; SAMEA14429757
Encyclopedic resources Wikidata; Q112930593
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4