WAe009-A-3H

Reviewed by Australian Stem Cell Registry

Alternative Names: TAFAZZINΔ3 C15; TAFAZZINΔ3; TAZΔ3; TAFAZZIN-KO C15; TAFAZZINKO C15; TAZKO C15

Details

Description

This induced pluripotent stem cell line is a sub clone of WAe009-A which was originally derived from a female blastocyst. WAe009-A-3H has been modified using CRISPR/Cas9 to induce compound heterozygous mutations which cause skipping of TAFAZZIN exon 3. The line represents a model of the mitochondrial disease Barth Syndrome. Expression of OCT4, NANOG, SSEA-4, TRA-1-60 and TRA-1-81 in undifferentiated cells, and directed differentiation to endoderm, mesoderm and ectoderm have been reported.

Tissue & Disease as reported

Disease as reported (Genomic Modifications)

Genetic Information

Genotype Locus
TAFAZZIN
Polymorphism
Compound heterozygous: NC_000023.11:g.154413203_154413213del; and: NC_000023.11:g.154413186_154413210del
Modifications
Gene Knock-out

Associated Publications

Journal Year Article
Stem Cell Research 2026 Generation of a pluripotent embryonic stem cell TAFAZZIN hESC model (WAe009-A-3H) of Barth syndrome

Line Custodianship

Cell Line Maintainer

Ann Frazier

Affiliated Institutions
  • Murdoch Children's Research Institute, Melbourne, Australia
View all cell lines from this group

Cell Line Producer

Murdoch Children's Research Institute

Affiliated Institutions
  • Murdoch Children's Research Institute, Melbourne, Australia

Source

Parental Cell Line

WAe009-A

Donor Derived

Age: Embryo

Biological Sex: Female

Derivation Details

Embryonic Derivation Details

NHMRC Licence Number: None

Genetic Diagnosis: None

Supernumerary from IVF: None

Derivation Year: Dec. 1, 2025

Ethics

Ethics Number: 93025

Institution Human Research Ethics Council: Royal Children's Hospital Human Research Ethics Committee

Approval Date: None

Modifications

Genomic Modifications

TAFAZZIN

Compound heterozygous deletions were introduced at the TAFAZZIN locus (exon 3 splice acceptor site) to induce skipping of exon 3 and generate an in vitro model of Barth Syndrome. Alleles were validated by PCR and Sanger Sequencing. Sequencing of cDNA was reported to confirm skipping of exon 3 in stable transcripts and no off-target mutagenesis was detected in the top predicted sites when assessed by PCR.

Genotype: Heterozygous: NC_000023.11:g.154413203_154413213del
Cytoband: Xq28
Mutation Type: Gene Knock-out
Delivery Method: CRISPR/Cas9

Quality Assurance

Genomic Characterisation

Passage Number: >10

Karyotype: arr(1-22,X)x2

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Infinium GSA-24 v1.0; resolution 0.5 Mb).

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
NANOG Immunostaining
POU5F1 (OCT-4) Flow cytometry
SSEA-4 Flow cytometry
TRA-1-81 Flow cytometry
TRA-1-60 Flow cytometry

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: SOX17, CXCR4

Mesoderm

In vitro directed differentiation

Assessed by: In vitro directed differentiation

Markers: TBXT, CXCR4

Ectoderm

In vitro directed differentiation

Assessed by: In vitro directed differentiation

Markers: PAX6, NES

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: 5%

Medium Items:

  • Base Medium: KnockOut Serum Replacement - Thermo Fisher Scientific Inc.
  • Supplement: FGF2 - PeproTech

Passage Method: Enzymatically