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UKKi009-A

Donor information

Gender:Female
Age:35-39
Ethnicity:Caucasian, German
Donor karyotype:46,XX

Disease status

Disease: Prolonged QT interval
Long QT (LQT) Syndrome Type 2, mutation in KCNH2 gene c.3035_3045delTCCCTCGATGC, p.Leu1012Profs*55
Affected: Yes
Disease stage: Symptomatic
Disease variant
Gene: KCNH2
Chromosome location: 7q36.1
Nucleotide sequence HGSV: 1.NM_000238.3: c.3035_3045delTCCCTCGATGC
Protein sequence HGSV: NP_000229.1:p.Leu1012Profs*55
Description: Please explain briefly the supporting evidence
Disease associated phenotypes:Prolonged QT interval on ECG
Non-disease associated phenotypes:Prolonged QT interval, syncopes
Family history:Not known
Medical history:Yes
Clinical information:Medication available

General information

Depositor:Klinikum der Universität zu Köln
Cell line name:UKKi009-A
Cell line alternative names:NP0011-8
Biosamples ID:SAMEA4583816
hPSCreg name:UKKi009-A
Derivation country:Germany

Related lines

From the same donor: UKKi009-B
At European Collection of Authenticated Cell Cultures (ECACC)
In stock
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.