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Cellosaurus SHETi003-A (CVCL_C1WH)

[Text version]
Cell line name SHETi003-A
Accession CVCL_C1WH
Resource Identification Initiative To cite this cell line use: SHETi003-A (RRID:CVCL_C1WH)
Comments From: Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:27365; TECRL; Simple; p.Arg196Gln (c.587G>A); ClinVar=VCV000372284; Zygosity=Heterozygous (PubMed=35679758).
  • Mutation; HGNC; HGNC:27365; TECRL; Simple; c.918+3T>G; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=35679758).
Disease Catecholaminergic polymorphic ventricular tachycardia type 3 (NCIt: C189278)
Catecholaminergic polymorphic ventricular tachycardia (ORDO: Orphanet_3286)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 13Y
Category Induced pluripotent stem cell
Publications

PubMed=35679758; DOI=10.1016/j.scr.2022.102811
Liu W., Liu T., Xiao T.-T., Xie L.-J., Hou C.-L., Jiang X.-W.
Generation of an induced pluripotent stem cell line from a Chinese Han child with catecholaminergic polymorphic ventricular tachycardia.
Stem Cell Res. 62:102811-102811(2022)

Cross-references
Cell line databases/resources hPSCreg; SHETi003-A
Biological sample resources BioSamples; SAMEA12941516
Encyclopedic resources Wikidata; Q114313010
Entry history
Entry creation22-Sep-2022
Last entry update19-Dec-2024
Version number5