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UKKi016-C

Donor information

Gender:Male
Age:30-34
Ethnicity:Caucasian / european

Disease status

Disease: Familial long QT syndrome
Long QT syndrome 1, c. 1096 C>T, p. Arg366Trp
Affected: Yes
Carrier: Yes
Disease variant
Gene: LQT1
Chromosome location: 11p15.5-p15.4
Nucleotide sequence HGSV: NM_000218.2:c.1096 C>T
Protein sequence HGSV: NP_000209.2: p. Arg366Trp
Zygosity: Heterozygous
Description: Please explain briefly the supporting evidence
Family history:Brother + son + niece + grandniece also affected
Medical history:Yes
Clinical information:Yes

General information

Depositor:Klinikum der Universität zu Köln
Cell line name:UKKi016-C
Cell line alternative names:NP0078-13
Biosamples ID:SAMEA104615853
hPSCreg name:UKKi016-C
Derivation country:Germany

Related lines

From the same donor: UKKi016-A, UKKi016-B
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.