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Cellosaurus L1-C5 (CVCL_WV81)

[Text version]
Cell line name L1-C5
Accession CVCL_WV81
Resource Identification Initiative To cite this cell line use: L1-C5 (RRID:CVCL_WV81)
Comments From: Peking University; Beijing; China.
Population: Chinese.
Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations
  • Mutation; HGNC; HGNC:6294; KCNQ1; Simple; c.605-2A>G; ClinVar=VCV001342708; Zygosity=Heterozygous; Note=Splice acceptor mutation (from autologous cell line L1-C4).
  • Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Gly272Asp (c.815G>A) (p.Gly145Asp, c.434G>A); ClinVar=VCV000053109; Zygosity=Heterozygous (from autologous cell line L1-C4).
Disease Long QT syndrome 1 (NCIt: C85049)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WV80 ! L1-C4
Sex of cell Male
Age at sampling Children
Category Induced pluripotent stem cell
Publications

PubMed=31226583; DOI=10.1016/j.scr.2019.101483
Wang Z., Wang L.-P., Liu W.-L., Hu D.-Y., Gao Y.-F., Ge Q., Liu X., Li L., Wang Y.-M., Wang S.-Q., Li C.-L.
Pathogenic mechanism and gene correction for LQTS-causing double mutations in KCNQ1 using a pluripotent stem cell model.
Stem Cell Res. 38:101483-101483(2019)

Cross-references
Encyclopedic resources Wikidata; Q95980748
Entry history
Entry creation05-Jul-2019
Last entry update19-Dec-2024
Version number13