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Cellosaurus ZJYYPHi001-A (CVCL_B5GQ)

[Text version]
Cell line name ZJYYPHi001-A
Accession CVCL_B5GQ
Resource Identification Initiative To cite this cell line use: ZJYYPHi001-A (RRID:CVCL_B5GQ)
Comments From: Yuyao People's Hospital of Zhejiang Province; Yuyao city; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 10593; SCN5A; Simple; p.Arg513Cys (c.1537C>T); ClinVar=VCV000201456; Zygosity=Heterozygous (PubMed=34678660).
Disease Long QT syndrome 3 (NCIt: C137959)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=34678660; DOI=10.1016/j.scr.2021.102576
Chen J.-N., Song Y.-S., Gu J.-Q., Chen L.
Reprogramming of a human induced pluripotent stem cell line from a long QT syndrome patient harboring a heterozygous mutation of c.1537C>T in SCN5A gene.
Stem Cell Res. 57:102576-102576(2021)

Cross-references
Cell line databases/resources hPSCreg; ZJYYPHi001-A
Encyclopedic resources Wikidata; Q110434441
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4