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Cellosaurus HUBUi002-A (CVCL_A2EK)

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Cell line name HUBUi002-A
Accession CVCL_A2EK
Resource Identification Initiative To cite this cell line use: HUBUi002-A (RRID:CVCL_A2EK)
Comments From: Hubei University; Hubei; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3052; DSP; Simple; p.Gly35Val (c.104G>T); Zygosity=Heterozygous (PubMed=32942234).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=32942234; DOI=10.1016/j.scr.2020.101977
Shu-Tao Xia, Xv-Dong Wang, Peng Yue, Yi-Fei Li, Dong-Hui Zhang;
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; HUBUi002-A
Encyclopedic resources Wikidata; Q105509535
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number5