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Donor information

Ethnicity:Caucasian, German

Disease status

Disease: Catecholaminergic polymorphic ventricular tachycardia
CPVT1, Mutation in RYR2 gene c.7447T>A, p.F2483I
Affected: Yes
Carrier: Yes
Disease stage: Symptomatic
Disease variant
Gene: RYR2
Chromosome location: 1q43
Nucleotide sequence HGSV: NM_001035.3:c.7447T>A
Protein sequence HGSV: NP_001026.2:p.F2483I
Zygosity: Heterozygous
Publication: http://www.ncbi.nlm.nih.gov/pubmed/22178870
Description: Genomic DNA sequencing confirmed the presence of this mutation in this cell line
Disease associated phenotypes:Catecholaminergic polymorphic ventricular tachycardia (CPVT) type 1 [CPVT1, point mutation p.F2483I, c7447T>A (Phe > Ile) in RYR2 gene]
Non-disease associated phenotypes:Cardiac arrhythmia at exercise; normal ECG at rest
Family history:De novo mutation
Medical history:No (can be retreived upon request)
Clinical information:Not available

General information

Depositor:Klinikum der Universität zu Köln
Cell line name:UKKi007-B
Cell line alternative names:NP0014-5
Biosamples ID:SAMEA2698638
hPSCreg name:UKKi007-B
Reference publications:

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At European Collection of Authenticated Cell Cultures (ECACC)
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