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UKKi034-A

Donor information

Gender:Female
Age:25-29

Disease status

Disease: long QT syndrome 1
KCNQ1, heterozygous mutation, c.830C>T, p.Ser277Leu
Affected: Yes
Disease variant
Gene: LQT1
Chromosome location: 11p15.5-p15.4
Nucleotide sequence HGSV: 1.NM_000218.2:c.830C>T
Protein sequence HGSV: NP_000209.2:p.Ser277Leu
Zygosity: Heterozygous
Description: Please explain briefly the supporting evidence
Family history:No
Medical history:Yes
Clinical information:Yes

General information

Depositor:Klinikum der Universität zu Köln
Cell line name:UKKi034-A
Cell line alternative names:NP0079-A, NP0079-7B
Biosamples ID:SAMEA104615856
hPSCreg name:UKKi034-A
Derivation country:Germany

Related lines

From the same donor: UKKi034-B, UKKi034-C
At European Collection of Authenticated Cell Cultures (ECACC)
Restocking
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.