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Cellosaurus NUIGi003-B (CVCL_YT11)

[Text version]

Cell line name NUIGi003-B
Synonyms LQT002C2
Accession CVCL_YT11
Resource Identification Initiative To cite this cell line use: NUIGi003-B (RRID:CVCL_YT11)
Comments From: National University of Ireland Galway; Galway; Ireland.
Population: Caucasian.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; HGNC; 6251; KCNH2; Simple; p.Val822Met (c.2464G>A); ClinVar=VCV000014424; Zygosity=Heterozygous (from autologous cell line).
Disease Long QT syndrome 2 (NCIt: C137957)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_WU63 ! NUIGi003-A
Sex of cell Female
Age at sampling 29Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; NUIGi003-B
Biological sample resources BioSamples; SAMEA9697034
Other Wikidata; Q98128126
Entry history
Entry creation12-Mar-2020
Last entry update23-Sep-2021
Version number4