UKKi007-B
Donor information | |
|---|---|
| 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 |
Timepoint: 48 hours post-passage
Magnification: 4x
Timepoint: 48 hours post-passage
Magnification: 10x
Timepoint: Confluence
Magnification: 4x
Timepoint: Confluence
Magnification: 10x
-
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
Characterization
Analysis of Undifferentiated Cells
Marker expression: Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles SSEA-4 Yes POU5F1 (OCT-4) Yes TRA1-80 Yes NANOG Yes Morphology: 
Brighfield image of NP0014-5 colony at day 3 post-thaw at higher mahnification; 32x objective
Differentiation potency
Ectoderm: Ectoderm In vitro spontaneous differentiation
Marker Expressed B-TUBULIN Yes FOXG1 No HES5 Yes NEUROD1 Yes PAX6 Yes Sox1 Yes Endoderm: Endoderm In vitro spontaneous differentiation
Marker Expressed BMP4 Yes DCN Yes GATA4 No HAND1 Yes PDGF Yes PECAM1 (CD31) Yes VIMENTIN Yes Mesoderm: Mesoderm In vitro spontaneous differentiation
Marker Expressed ACTN2, cardiac alpha actinin Yes CXCR4 Yes FOXA2 No GATA6 Yes GSC Yes MLC2v, myosin light chain 2v Yes MYH6, alpha myosin heavy chain Yes PITX1 Yes RYR2 Yes SOX17 Yes Microbiology / Virus Screening
HIV 1: Negative HIV 2: Not done Hepatitis B: Negative Hepatitis C: Negative Mycoplasma: Negative Sterility
Inoculation for microbiological growth: No Contaminants Detected Mycoplasma: Not Detected Viability: Viable post-cryopreservation -
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
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.
A CLIP contains information about a cell line including any specific third party obligations relating to, for example, licensing obligations or the donor consent which affect the use of the cell line.
A batch specific Certificate of Analysis will be available to download once you receive your EBiSC iPSC line.