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Cellosaurus ZJ-C-hiPSC (CVCL_A4HJ)

[Text version]
Cell line name ZJ-C-hiPSC
Synonyms ZJ-C; ZJ-Corrected-hiPSC
Accession CVCL_A4HJ
Resource Identification Initiative To cite this cell line use: ZJ-C-hiPSC (RRID:CVCL_A4HJ)
Comments From: Department of Physiology and Pathophysiology, School of Basic Medical Sciences, Fudan University; Shanghai; China.
Population: Chinese.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9386; PRKAG2; Simple_corrected; p.Arg302Gln (c.905G>A); ClinVar=VCV000006846; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=29452156).
Disease Familial hypertrophic cardiomyopathy type 6 (NCIt: C177249)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A4HC (ZJ-hiPSC 3)
Sex of cell Male
Age at sampling 26Y
Category Induced pluripotent stem cell
Publications

PubMed=29452156; DOI=10.1016/j.yjmcc.2018.02.007
Zhan Y.-K., Sun X.-L., Li B., Cai H.-H., Xu C., Liang Q.-Q., Lu C., Qian R.-Z., Chen S.-F., Yin L.-H., Sheng W., Huang G.-Y., Sun A.-J., Ge J.-B., Sun N.
Establishment of a PRKAG2 cardiac syndrome disease model and mechanism study using human induced pluripotent stem cells.
J. Mol. Cell. Cardiol. 117:49-61(2018)

Cross-references
Cell line databases/resources SKIP; SKIP003142
Encyclopedic resources Wikidata; Q105511852
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6