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Donor information


Disease status

Disease: Prolonged QT interval
LQT1 syndrome (a type of cardiac arrhythmia), KCNQ1; c.1690G>C; p.Asp564His
Disease variant
Gene: LQT1
Chromosome location: 11p15.5-p15.4
Nucleotide sequence HGSV: 1.NM_000218.2:c.1690G>C
Protein sequence HGSV: NP_000209.2:p.Asp564His
Zygosity: Heterozygous
Description: Please explain briefly the supporting evidence
Medical history:Yes
Clinical information:Yes

General information

Depositor:Klinikum der Universität zu Köln
Cell line name:UKKi029-C
Cell line alternative names:NP0077-18C
Biosamples ID:SAMEA104494408
hPSCreg name:UKKi029-C
Derivation country:Germany

Related lines

From the same donor: UKKi029-A, UKKi029-B
At European Collection of Authenticated Cell Cultures (ECACC)
Cell Line Information Pack
A Cell Line Information Pack (CLIP) is created to communicate cell line specific information relating to restrictions on use to a user accessing cell lines from EBiSC. A CLIP contains information about a cell line including any specific third party obligations (TPOs) relating to, for example, intellectual property (IP) or the donor consent which affect the use of the cell line.