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Cellosaurus JSPHi002-A (CVCL_C0JJ)

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Cell line name JSPHi002-A
Accession CVCL_C0JJ
Resource Identification Initiative To cite this cell line use: JSPHi002-A (RRID:CVCL_C0JJ)
Comments From: Division of Cardiology, The First Affiliated Hospital of Nanjing Medical University; Nanjing; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.His258Leu (c.773A>T); Zygosity=Heterozygous (PubMed=35580545).
Disease Long QT syndrome 1 (NCIt: C85049)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=35580545; DOI=10.1016/j.scr.2022.102810
Qing Wang, Yi-Ke Zhang, Feng Zhang, Zhao-Min Li, Hong-Yi Cheng, Yong-Ping Lin, Yue Zhu, Hong-Wu Chen, Chang Cui, Ming-Long Chen;
Generation of a human induced pluripotent stem cell line (JSPHi002-A) from a patient with long-QT syndrome type 1 caused by KCNQ1 c.773A > T mutation.
Stem Cell Res. 62:102810-102810(2022)

Cross-references
Cell line databases/resources hPSCreg; JSPHi002-A
Encyclopedic resources Wikidata; Q112929900
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5