UKKi007-B
Donor information | |
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Gender: | Female |
Age: | 45-49 |
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 HGVS: | NM_001035.3:c.7447T>A |
Protein sequence HGVS: | 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: | |
Related lines | |
From the same donor: | UKKi007-A |
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Derivation
Derivation
Primary cell type: Fibroblast of dermis Location of primary tissue procurement: Zone of skin Tissue collection year: 2009 Passage number reprogrammed: P3 Reprogramming method
Vector type: Integrating Vector: Virus Virus type: Retrovirus Gene list: - KLF4
- MYC
- POU5F1
- SOX2
Have the reprogramming vectors been silenced: Yes Merthods used: rtpcr Vector map: File Derivation
Xeno free conditions: no Derived under gmp: no Available as clinical grade: no -
Culture conditions
Culture Conditions
Medium: Essential E8 Passage method: EDTA Matrix: Vitronectin CO2 concentration: 5% O2 concentration: 21% Temperature: 37C -
Characterization
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Genotyping
Genotyping
Karyotyping
Cell line karyotype: XY Karyotyping method: Molecular karyotyping using using OmniExpress Exome Chip Genotyping
Genome-wide analysis: SNP-genotyping using OmniExpress Exome Chip
STR/Fingerprinting: A 16 allele profile has been recorded and data is available upon request, after cell line purchase.
At European Collection of Authenticated Cell Cultures (ECACC)
In stock
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