UQi001-A-1

Not yet reviewed by Australian Stem Cell Registry

C11-TDP43-A382T

Details

Tissue & Disease as reported

Disease as reported (Genomic Modifications)
amyotrophic lateral sclerosis (Isogenic modification) amyotrophic lateral sclerosis (Isogenic modification)

Genetic Information

Genotype Locus
TARDBP
Polymorphism
Heterozygous: unspecified_reference_TARDBP:c.1144G>A(p.Ala382Thr)
Modifications
Isogenic modification Isogenic modification

Associated Publications

Journal Year Article
Stem Cell Research 2023 Generation of a human induced pluripotent stem cell line (UQi001-A-1) edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP c.1144G > A (p.A382T) missense mutation.
Stem cell research 2023 Generation of a human induced pluripotent stem cell line (UQi001-A-1) edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP c.1144G > A (p.A382T) missense mutation

Line Custodianship

Cell Line Maintainer

Ngo

Affiliated Institutions
  • The University of Queensland, St Lucia, Australia
View all cell lines from this group

Cell Line Producer

The University of Queensland

Affiliated Institutions
  • The University of Queensland, St Lucia, Australia

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: CL:0002620
Label: skin fibroblast
Definition: A fibroblast of skin.

Source Cell Origin: UBERON:0001332
Label: prepuce of penis
Definition: A retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect.

Derivation Year:

Reprogramming Method

Vector Type: Not integrated

Vector: Episomal

Ethics

Ethics Number: HE000667

Institution Human Research Ethics Council: The University of Queensland Human Ethics Research Office

Approval Date: Jan. 1, 2015

Modifications

Genomic Modifications

A neurodegenerative disorder characterized by progressive degeneration of the motor neurons of the central nervous system. It results in weakness and atrophy of the muscles which leads to an inability to initiate and control voluntary movements.

Mutation Type: Isogenic modification

Heterozygous: unspecified_reference_TARDBP:c.1144G>A(p.Ala382Thr)

Heterozygous c.1144G>A (p.Ala382Thr) missense variant was introduced to TARDBP exon 6 to generate a model of Amyotrophic Lateral Sclerosis.

Cytoband: 1p36.22
Mutation Type: Isogenic modification
Delivery Method: CRISPR/Cas9

Quality Assurance

Genomic Characterisation

Passage Number: 7

Karyotype: 46,XY

Karyotype Method: G-banding

Summary: Karyotyping occurred at a resolution of 500bphs (>15 metaphases analysed).

STR analysis Results:

Loci Allele 1 Allele 2
Amelogenin None None
CSF1PO None None
D13S317 None None
D16S539 None None
D21S11 None None
D5S818 None None
TH01 None None
TPOX None None
VWA None None
D7S820 None None

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
NANOG Immunostaining
SSEA-4 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: RT-PCR

Markers: SOX17

Mesoderm

In vitro directed differentiation

Assessed by: RT-PCR

Markers: NCAM1

Ectoderm

In vitro directed differentiation

Assessed by: RT-PCR

Markers: PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Coat: Matrigel - Corning
  • Base Medium: mTeSR Plus - STEMCELL Technologies

Passage Method: Enzyme-free cell dissociation

External References

Source
Stem Cell Research Generation of a human induced pluripotent stem cell line (UQi001-A-1) edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP c.1144G > A (p.A382T) missense mutation.
Stem cell research Generation of a human induced pluripotent stem cell line (UQi001-A-1) edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP c.1144G > A (p.A382T) missense mutation
hPSCreg UQi001-A-1
Cellosaurus CVCL_D0P9
BioSamples SAMEA113429835
Wikidata Q123033758
Phenomics Australia Phenomics Australia