ID   UKKi034-B
AC   CVCL_VF40
SY   NP0079-B; NP0079-15B
DR   BioSamples; SAMEA104615857
DR   EBiSC; UKKi034-B
DR   ECACC; 66540893
DR   hPSCreg; UKKi034-B
DR   Wikidata; Q54990538
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-B).
CC   Discontinued: ECACC; 66540893; 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_VF39 ! UKKi034-A
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
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