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Cellosaurus YUCMi024-A (CVCL_E5EC)

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Cell line name YUCMi024-A
Synonyms hiPSC-KCNQ1_G245G_2
Accession CVCL_E5EC
Resource Identification Initiative To cite this cell line use: YUCMi024-A (RRID:CVCL_E5EC)
Comments From: Yonsei University College of Medicine; Seoul; South Korea.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Gly245Glu (c.734G>A); Zygosity=Heterozygous (PubMed=39388802).
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 Male
Age at sampling 57Y
Category Induced pluripotent stem cell
Publications

PubMed=39388802; DOI=10.1016/j.scr.2024.103571
Dasom Mun, Gyeongseo Yoo, Malgeum Park, Ji-Young Kang, Nuri Yun, Boyoung Joung;
Establishment of two human induced pluripotent stem cell lines from familial long QT syndrome type 1 patients carrying KCNQ1 mutation.
Stem Cell Res. 81:103571-103571(2024)

Cross-references
Cell line databases/resources hPSCreg; YUCMi024-A
Biological sample resources BioSamples; SAMEA115789097
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1