CIAUi003-A

Extracted from hPSCreg

BFC4, MCCIi005-A-1

Details

Tissue & Disease as reported

Disease as reported (Donor)
catecholaminergic polymorphic ventricular tachycardia 2
Disease as reported (Genomic Modifications)
catecholaminergic polymorphic ventricular tachycardia 2 (Variant)

Genetic Information

Modifications
Variant

Associated Publications

Journal Year Article
Stem cell research 2019 Characterization of the first induced pluripotent stem cell line generated from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia due to a heterozygous mutation in cardiac calsequestrin-2

Line Custodianship

Cell Line Maintainer

Centenary Institute of Cancer Medicine and Cell Biology

View all cell lines from this group

Cell Line Producer

Centenary Institute of Cancer Medicine and Cell Biology

Affiliated Institutions
  • Centenary Institute of Cancer Medicine and Cell Biology, Camperdown, Australia

Source

Donor Derived

Age: Unknown

Biological Sex: Female

Disease: MONDO:0012762
Label: catecholaminergic polymorphic ventricular tachycardia 2
Definition: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: CL:0000842
Label: mononuclear leukocyte
Definition: A leukocyte with a single non-segmented nucleus in the mature form.

Source Cell Origin: UBERON:0000178
Label: blood
Definition: A fluid that is composed of blood plasma and erythrocytes.

Derivation Year:

Reprogramming Method

Vector Type: Not integrated

Vector: Episomal

Ethics

Ethics Number: X19-0108 and 2019/ETH00461

Institution Human Research Ethics Council: Ethics Review Committee, Sydney Local Health District

Approval Date: To be verified

Modifications

Genomic Modifications

Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene.

Cytoband: chr1(GRCh38):g.115732968T>C
Mutation Type: Variant

Quality Assurance

Genomic Characterisation

Passage Number: Not available

Karyotype: Normal

Karyotype Method: Molecular karyotyping by SNP array

STR analysis Results:

Performed but not available.

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
TRA 1-60 Immunostaining
SOX2 Immunostaining
SOX2 RT-PCR
SSEA-4 Immunostaining
OCT4 Immunostaining
OCT4 RT-PCR
NANOG RT-PCR

Scorecard Results

Undifferentiated Cells

No available data for this cell line.

Pluripotency

No available data for this cell line.

Pluripotency Characterisation

Endoderm

None

Assessed by: Unavailable

Markers: CXCR4;SOX17

Mesoderm

None

Assessed by: Unavailable

Markers: TNNT2;NKX2.5

Ectoderm

None

Assessed by: Unavailable

Markers: NESTIN;PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

Passage Method: Not specified