ID   UKKi034-A
AC   CVCL_VF39
SY   NP0079-A; NP0079-7B
DR   BioSamples; SAMEA104615856
DR   EBiSC; UKKi034-A
DR   ECACC; 66540892
DR   hPSCreg; UKKi034-A
DR   Wikidata; Q54990537
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Ser277Leu (c.830C>T) (p.Ser150Leu, c.449C>T); ClinVar=VCV000053116; Zygosity=Heterozygous (EBiSC=UKKi034-A).
CC   Discontinued: ECACC; 66540892; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VF40 ! UKKi034-B
OI   CVCL_VF41 ! UKKi034-C
SX   Female
AG   25-29Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 30-01-24; Version: 11
//