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Donor information

Ethnicity:Caucasian, German

Disease status

Disease: Prolonged QT interval
Heterozygous mutation in SCN5A gene c.718G>A, p.V240M in the cytoplasmic loop between membrane-spanning segments four and five within the first domain (DI-S4/S5) of Nav1.5 channel
Affected: Yes
Disease stage: Symptomatic
Disease variant
Gene: SCN5A
Chromosome location: 3p22.2
Nucleotide sequence HGSV: NM_000335.4:c.718G>A
Protein sequence HGSV: NP_000326.2:p.V240M
Zygosity: Heterozygous
Publication: http://www.ncbi.nlm.nih.gov/pubmed/24349418
Description: Please explain briefly the supporting evidence
Disease associated phenotypes:Long QT syndrome type 3
Family history:Not known
Medical history:Yes
Clinical information:Medication information available

General information

Depositor:Klinikum der Universität zu Köln
Cell line name:UKKi008-A
Cell line alternative names:NP0016-3
Biosamples ID:SAMEA4583697
hPSCreg name:UKKi008-A
Reference publications:
At European Collection of Authenticated Cell Cultures (ECACC)
In stock
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