CIAUi003-A

Flagged for further review

Alternative Names: MCCIi005-A-1; BFC4

Details

Description

This induced pluripotent stem cell line was reprogrammed from the peripheral blood mononuclear cells of a female Catecholaminergic Polymorphic Ventricular Tachycardia patient using episomal vectors. CIAUi003-A is described as having a normal karyotype and a heterozygous variant in the CASQ gene. Expression of OCT4, SSEA-4, NANOG, SOX2 and TRA-1-60 in undifferentiated cells, and in vitro spontaneous differentiation to endoderm, mesoderm have been reported.

Tissue & Disease as reported

Disease as reported (Donor)
catecholaminergic polymorphic ventricular tachycardia

Genetic Information

Genotype Locus
CASQ2
Polymorphism
Heterozygous: NM_001232.4:c.539A>G p.(Lys180Arg)

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

Cell line maintainer not provided

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: 40-44

Biological Sex: Female

Disease: MONDO:0017990
Label: catecholaminergic polymorphic ventricular tachycardia
Definition: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: CL:2000001
Label: peripheral blood mononuclear cell
Definition: A leukocyte with a single non-segmented nucleus in the mature form found in the circulatory pool of blood.

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

Derivation Year: 2017

Reprogramming Method

Vector Type: Not integrated

Vector: Episomal

Ethics

Ethics Number: HREC/13/RPAH/93 Protocol No X13-0069

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

Approval Date: None

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: Not available

Karyotype: arr(1-22,X)x2

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Global Screening Array 24, v.1.0; resolution 0.5 Mb).

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
SSEA-4 Immunostaining
POU5F1 (OCT-4) Immunostaining
SOX2 RT-PCR
POU5F1 (OCT-4) 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

In vitro directed differentiation

Assessed by: In vitro directed differentiation

Markers: CXCR4, SOX17

Mesoderm

In vitro directed differentiation

Assessed by: In vitro directed differentiation

Markers: NKX2-5, TNNT2

Ectoderm

In vitro directed differentiation

Assessed by: In vitro directed differentiation

Markers: NES, PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Medium: mTeSR1 - STEMCELL Technologies
  • Base Coat: Matrigel (hESC Qualified) - Corning

Passage Method: Other

Other passage method: Manual