CIAUi003-A-1

Not yet reviewed by Australian Stem Cell Registry

BFC4-C, BFC4-CRISPR-corrected

Details

Tissue & Disease as reported

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

Genetic Information

Genotype Locus
CASQ2
Polymorphism
NM_001232.4:c.539A=((NP_001223.2):p.(Lys180=))
Modifications
Variant Isogenic modification

Associated Publications

Journal Year Article
Stem Cell Research 2025 Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2.

Line Custodianship

Cell Line Maintainer

Lim

View all cell lines from this group

Cell Line Producer

Centenary Institute

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: 2019/ETH00461 Protocol No X19-0108

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

Approval Date: Jan. 1, 2019

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

NM_001232.4:c.539A=((NP_001223.2):p.(Lys180=))

Correction of heterozygous NM_001232.4(CASQ2):c.539A>G((NP_001223.2):p.(Lys180Arg)) variant present in the parental line (CIAUi003-A). Clones were characterised to confirm the absence of plasmid integration, the donor variant and off-target activity of Cas9.

Cytoband: 1p13.1
Mutation Type: Isogenic modification
Delivery Method: CRISPR/Cas9

Quality Assurance

Genomic Characterisation

Passage Number: 33

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 at 0.50 Mb resolution).

STR analysis Results:

Performed but not available.

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
OCT4 Immunostaining
SSEA-4 Immunostaining
TRA 1-60 Immunostaining
SOX2 Immunostaining
NANOG RT-PCR
POU5F1 (OCT-4) RT-PCR
SOX2 RT-PCR
POU5F1 (OCT-4) Immunostaining
TRA-1-60 Immunostaining

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: Immunostaining

Markers: CXCR4;SOX17

Mesoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: NKX2.5;TNNT2

Ectoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: NES;PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Coat: Matrigel (hESC Qualified) - Corning
  • Base Medium: mTeSR Plus - STEMCELL Technologies
  • Supplement: ROCK inhibitor (Y-27632) - STEMCELL Technologies

Passage Method: Enzyme-free cell dissociation