UOWi005-A

Flagged for further review

CCNF2, CCNF, iPSC MB2-1

Details

Tissue & Disease as reported

Biopsy Location
Ontology ID: fma7163
Label: Skin
Definition: Nonparenchymatous organ that consists of the epidermis, dermis and sets of hair and nails and which surrounds the entire body. Subdivisions of the skin surround various body parts; as a whole, the skin constitutes the external layer of the body. Examples: There is only one skin.
Tissue for derived iPSC
Disease as reported (Donor)
amyotrophic lateral sclerosis

Genetic Information

Genotype Locus
CCNF
Polymorphism
unspecified_reference_CCNF:p.Ser621Gly

Associated Publications

Journal Year Article
Frontiers in Genetics 2024 10.3389/fgene.2024.1389558
Stem cell research 2023 Generation of induced pluripotent stem cell lines from a sister pair who suffered post-partum or recurrent Spontaneous Coronary Artery Dissections
Human Molecular Genetics 2023 10.1093/hmg/ddad063
Molecular Neurobiology 2023 10.1007/s12035-023-03355-2
Scientific Reports 2023 10.1038/s41598-023-46802-9
Frontiers in molecular neuroscience 2021 Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations
Stem cell research 2019 Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNF(S621G) familial amyotrophic lateral sclerosis patient using mRNA reprogramming
Stem Cell Research 2019 Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNF

Line Custodianship

Cell Line Maintainer

Lezanne Ooi

Affiliated Institutions
  • University of Wollongong, Wollongong City Council, Australia
View all cell lines from this group

Cell Line Producer

University of Wollongong

Affiliated Institutions
  • University of Wollongong, Wollongong City Council, Australia

Source

Donor Derived

Age: 55-59

Biological Sex: Male

Disease: MONDO:0004976
Label: amyotrophic lateral sclerosis
Definition: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: CL:0000057
Label: fibroblast
Definition: A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped.

Source Cell Origin: UBERON:0002067
Label: dermis
Definition: The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP].

Derivation Year: 2018

Ethics

Ethics Number: HE13/272

Institution Human Research Ethics Council: University of Wollongong Human Research Ethics Committee

Approval Date: To be verified

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 24

Karyotype: 46,XY

Karyotype Method: G-banding

Summary: Karyotyping occurred at a resolution of 400bphs (15 metaphase spreads).

STR analysis Results:

Loci Allele 1 Allele 2
D5S818 None None
D13S317 None None
D7S820 None None
D16S539 None None
VWA None None
TH01 None None
CSF1PO None None
D8S1179 None None
D21S11 None None
D3S1358 None None
D2S1338 None None
D19S433 None None
D18S51 None None
FGA None None
PENTA D None None
PENTA E None None
TPOX None None
Amelogenin None None

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
POU5F1 (OCT-4) Immunostaining
SSEA-4 Immunostaining
NANOG RT-PCR
POU5F1 RT-PCR

Scorecard Results

Undifferentiated Cells

No available data for this cell line.

Pluripotency

Classification Result
Self-renewal False
Endoderm True
Mesoderm True
Ectoderm True

Pluripotency Characterisation

Endoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: FOXA2

Mesoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: ACTN2

Ectoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: SMI32

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Medium: TeSR-E8 - STEMCELL Technologies

Passage Method: Enzymatically

External References

Source
Frontiers in Genetics 10.3389/fgene.2024.1389558
Stem cell research Generation of induced pluripotent stem cell lines from a sister pair who suffered post-partum or recurrent Spontaneous Coronary Artery Dissections
Human Molecular Genetics 10.1093/hmg/ddad063
Molecular Neurobiology 10.1007/s12035-023-03355-2
Scientific Reports 10.1038/s41598-023-46802-9
Frontiers in molecular neuroscience Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations
Stem cell research Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNF(S621G) familial amyotrophic lateral sclerosis patient using mRNA reprogramming
Stem Cell Research Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNF
hPSCreg UOWi005-A
Cellosaurus CVCL_VF31
Wikidata Q54991430
Phenomics Australia Phenomics Australia