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Donor information


Disease status

Disease: Brugada syndrome
c.1936delC;p.Gln646Argfs*5, Exon 13, SCN5A-Gen
Disease variant
Gene: SCN5A
Chromosome location: 3p22.2
Nucleotide sequence HGSV: 1.NM_000335.4:c.1936delC
Protein sequence HGSV: NP_000326.2:p.Gln646Argfs*5
Zygosity: Heterozygous
Description: Please explain briefly the supporting evidence
Family history:No
Medical history:No
Clinical information:Yes

General information

Depositor:Klinikum der Universität zu Köln
Cell line name:UKKi030-B
Cell line alternative names:NP0134-18A
Biosamples ID:SAMEA104494411
hPSCreg name:UKKi030-B
Derivation country:Germany

Related lines

From the same donor: UKKi030-A, UKKi030-C
At European Collection of Authenticated Cell Cultures (ECACC)
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.