CIAUi003-A

Not yet reviewed by Australian Stem Cell Registry

MCCIi005-A-1, BFC4

Details

Tissue & Disease as reported

Biopsy Location
Ontology ID: fma9670
Label: Portion of blood
Definition: Portion of body substance which has as its parts plasma and blood cells.
Tissue for derived iPSC
Disease as reported (Donor)
catecholaminergic polymorphic ventricular tachycardia 2

Genetic Information

Genotype Locus
CASQ2
Polymorphism
Heterozygous: NM_001232.4:c.539A>G(NP_001223.2: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

Centenary Institute of Cancer Medicine and Cell Biology

Affiliated Institutions
  • Centenary Institute of Cancer Medicine and Cell Biology, Camperdown, Australia
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: 40-44

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: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

Kit: [kit] Epi5 Episomal iPSC Reprogramming Kit

Detected: No

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: To be verified

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).

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

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

Passage Method: Not specified