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UKKi023-A

Donor information

Gender:Male
Age:50-54
Ethnicity:Caucasian / european

Disease status

Disease: Familial long QT syndrome
Disease variant: familial long QT syndrome 2, KCNH2,mutation in Exon 7 7q36.1, c.1591C>T; p.Arg531Trp
Affected: Yes
Carrier: Yes
Disease variant
Gene: KCNH2
Chromosome location: 7q36.1
Nucleotide sequence HGSV: 1.NM_000238.3:c.1591C>T
Protein sequence HGSV: NP_000229.1 :p.Arg531Trp
Zygosity: Heterozygous
Description: Please explain briefly the supporting evidence
Family history:Son, daughter, sister and grandchild are also affected
Medical history:Yes
Clinical information:Yes

General information

Depositor:Klinikum der Universität zu Köln
Cell line name:UKKi023-A
Cell line alternative names:NP0126-1
Biosamples ID:SAMEA17630668
hPSCreg name:UKKi023-A
Derivation country:Germany

Related lines

From the same donor: UKKi023-B, UKKi023-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.