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Cellosaurus HUBUi001-A (CVCL_A2EJ)

[Text version]
Cell line name HUBUi001-A
Accession CVCL_A2EJ
Resource Identification Initiative To cite this cell line use: HUBUi001-A (RRID:CVCL_A2EJ)
Comments From: Hubei University; Hubei; China.
Population: Chinese; Han.
Caution: Indicated to be of female origin in PubMed=32942234, but karyotype from the same paper shows X,Y.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3052; DSP; Simple; p.Gly35Val (c.104G>T); Zygosity=Heterozygous (PubMed=32942234).
  • Mutation; HGNC; 3052; DSP; Simple; p.Arg1873Cys (c.5617C>T); ClinVar=VCV000222581; Zygosity=Heterozygous (PubMed=32942234).
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 Female
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=32942234; DOI=10.1016/j.scr.2020.101977
Xia S.-T., Wang X.-D., Yue P., Li Y.-F., Zhang D.-H.
Establishment of induced pluripotent stem cell lines from a family of an ARVC patient receiving heart transplantation in infant age carrying compound heterozygous mutations in DSP gene.
Stem Cell Res. 48:101977-101977(2020)

Cross-references
Cell line databases/resources hPSCreg; HUBUi001-A
Encyclopedic resources Wikidata; Q105509533
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number4