CIAUi002-C

Reviewed by Australian Stem Cell Registry

Alternative Names: UBC3 M1

Details

Description

This induced pluripotent stem cell line was reprogrammed by using non-integrating episomal vectors to reprogram peripheral blood mononuclear cells. The donor of CIAUi002-C is a female carrier of a heterozygous variant in the SCN5A gene who presented with conduction disease, ventricular fibrillation (recurrent) and non-ischemic cardiomyopathy. CIAUi002-C is described as having a normal karyotype. Expression of OCT4, SOX2, NANOG, TRA-1-60 and SSEA-4 in undifferentiated cells, and directed differentiation to endoderm, mesoderm and ectoderm have been reported.

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)
recurrent ventricular fibrillation nonischemic cardiomyopathy conduction disease

Genetic Information

Genotype Locus
SCN5A
Polymorphism
Heterozygous: NM_000335.5:c.392+3A>G

Associated Publications

Journal Year Article
Stem cell research 2023 Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant

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: 30-34

Biological Sex: Female

Disease: MONDO:0000190
Label: ventricular fibrillation
Definition: A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)

Disease: EFO:0009881
Label: nonischemic cardiomyopathy
Definition: Forms of cardiomyopathy that are not related to known coronary artery disease.

Disease: MONDO:0000992
Label: heart conduction disease
Definition: A disease that has its basis in the disruption of the heart's electrical conduction system.

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: 2021

Reprogramming Method

Vector Type: Not integrated

Vector: Episomal

Ethics

Ethics Number: X19-0108

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: Normal

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Infinium Global Screening Array 24, v1.0; resolution 0.50 Mb).

STR analysis Results:

Performed but not available.

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
SSEA-4 Immunostaining
TRA-1-60 Immunostaining
SOX2 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: mTeSR Plus - STEMCELL Technologies
  • Base Coat: Matrigel (hESC Qualified) - Corning

Passage Method: Enzyme-free cell dissociation