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Cellosaurus EHTJUi004-A (CVCL_A8KR)

[Text version]

Cell line name EHTJUi004-A
Synonyms DF-GMP-ZB12AN-I
Accession CVCL_A8KR
Resource Identification Initiative To cite this cell line use: EHTJUi004-A (RRID:CVCL_A8KR)
Comments From: East Hospital Affiliated to Tongji University; Shanghai; China.
Population: Chinese; Han.
Derived from sampling site: Umbilical cord blood.
Sequence variations Mutation; HGNC; 3052; DSP; Simple; p.Leu1563fs (c.4683_4684delCT); Zygosity=Heterozygous (PubMed=34087998).
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 <1D
Category Induced pluripotent stem cell
Publications

PubMed=34087998; DOI=10.1016/j.scr.2021.102369
Qi Y.-Y., Lu J.-Z., Zhang L., Cao H.-X., Zhu H.-Y., Bai Z.-H., Zhang S.-M., Qiao Z.-B., Jia W.-W., Liu Z.-M.
An induced pluripotent stem cell line (EHTJUi004-A) generated from a neonate with c.4683_4684delCT:p.Leu1563fs mutation in the gene DSP causing familial arrhythmogenic right ventricular dysplasia (ARVD).
Stem Cell Res. 53:102369-102369(2021)

Cross-references
Cell line databases/resources hPSCreg; EHTJUi004-A
Biological sample resources BioSamples; SAMEA8394198
Entry history
Entry creation23-Sep-2021
Last entry update23-Sep-2021
Version number1