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UKKi019-A

Donor information

Gender:Female
Age:20-24
Ethnicity:Caucasian / european

Disease status

Disease: Familial long QT syndrome
Disease variant: familial long QT syndrome 2, KCNH2, c. 1280 A>G; p.Tyr427Cys
Affected: Yes
Carrier: Yes
Disease variant
Gene: KCNH2
Chromosome location: 7q36.1
Nucleotide sequence HGSV: 1.NM_000238.3:c.1280 A>G
Protein sequence HGSV: NP_000229.1:p.Tyr427Cys
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:UKKi019-A
Cell line alternative names:NP0081-1A
Biosamples ID:SAMEA17624668
hPSCreg name:UKKi019-A
Derivation country:Germany

Related lines

From the same donor: UKKi019-B, UKKi019-C
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.