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Cellosaurus ZJUi012-A (CVCL_C0IM)

[Text version]
Cell line name ZJUi012-A
Synonyms ZYLMYBPC3iPS; ZYL-iPSC-C2; ZJULLi004-A
Accession CVCL_C0IM
Resource Identification Initiative To cite this cell line use: ZJUi012-A (RRID:CVCL_C0IM)
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; 7551; MYBPC3; Simple; p.Ala1255Asp (c.3764C>A); ClinVar=VCV000179227; Zygosity=Heterozygous (PubMed=36041398).
Disease Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725)
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 60Y
Category Induced pluripotent stem cell
Publications

PubMed=36041398; DOI=10.1016/j.scr.2022.102898
Sun Y.-X., Zhou J.-J., Wang H.-K., Wang H., Chen X.-Z., Gong T.-Y., Liang P., Jiang C.-Y.
Establishment of an induced pluripotent stem cell line (ZJULLi004-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3/c.3764C>A mutation.
Stem Cell Res. 64:102898-102898(2022)

Cross-references
Cell line databases/resources hPSCreg; ZJUi012-A
Biological sample resources BioSamples; SAMEA14430505
Encyclopedic resources Wikidata; Q112930594
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number5