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Cellosaurus ZJUi004-A (CVCL_ZL89)

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Cell line name ZJUi004-A
Synonyms FXY-iPSC-C9
Accession CVCL_ZL89
Resource Identification Initiative To cite this cell line use: ZJUi004-A (RRID:CVCL_ZL89)
Comments From: Women's Hospital, Zhejiang University School of Medicine; Hangzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9024; PKP2; Simple; c.2357+1G>A (c.2489+1G>A); ClinVar=VCV000006757; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=32916635).
Disease Arrhythmogenic right ventricular dysplasia (NCIt: C84571)
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form (ORDO: Orphanet_293910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 56Y
Category Induced pluripotent stem cell
Publications

PubMed=32916635; DOI=10.1016/j.scr.2020.101965
Dan-Ni Zhou, Ya-Xun Sun, Jia-Xi Shen, Jun Su, Ting-Yu Gong, Chen-Yang Jiang, Ping Liang;
Generation of an induced pluripotent stem cell line from the dermal fibroblasts of a patient with arrhythmogenic right ventricular cardiomyopathy carrying a PKP2/c.2489 + 1G > A mutation.
Stem Cell Res. 48:101965-101965(2020)

Cross-references
Cell line databases/resources hPSCreg; ZJUi004-A
Encyclopedic resources Wikidata; Q98136561
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8