UOWi003-A

Flagged for further review

Alternative Names: iPSC 6848.2; 6848.2; FAD1

Details

Description

This induced pluripotent stem cell line was derived by using mRNA-based reprogramming to reprogram dermal fibroblasts from a familial Alzheimer Disease (FAD) patient. UOWi003-A is reported to carry a variant in the PSEN1 gene. Expression of OCT4, NANOG and SSEA-4 in undifferentiated cells has been reported, as has trilineage differentiation, and differentiation to basal forebrain-like cholinergic neurons. Note that the donor of UOWi003-A is related to the donor of UOWi002-A (who is unaffected by Alzheimer disease).

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)
alzheimer disease 3

Genetic Information

Genotype Locus
PSEN1
Polymorphism
Heterozygous: PSEN1(unspecified reference):p.(Ala246Glu)

Associated Publications

Journal Year Article
Cells 2020 A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling
Stem cell research 2018 Generation and characterization of human induced pluripotent stem cell lines from a familial Alzheimer's disease PSEN1 A246E patient and a non-demented family member bearing wild-type PSEN1

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: Female

Disease: MONDO:0011913
Label: Alzheimer disease 3
Definition: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.

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:0002097
Label: skin of body
Definition: The organ covering the body that consists of the dermis and epidermis.

Derivation Year: 2018

Ethics

Ethics Number: HE13/299

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

Approval Date: None

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: Not available

Karyotype: 46,XX

Karyotype Method: G-banding

Summary: Karyotyping occurred at a resolution of 400 bphs.

STR analysis Results:

Performed but not available.

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 (OCT-4) RT-PCR

Scorecard Results

Undifferentiated Cells

No available data for this cell line.

Pluripotency

No available data for this cell line.

Pluripotency Characterisation

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Coat: Matrigel - Corning
  • Base Medium: TeSR-E8 - STEMCELL Technologies

Passage Method: Not specified

External References

Source
Cells A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling
Stem cell research Generation and characterization of human induced pluripotent stem cell lines from a familial Alzheimer's disease PSEN1 A246E patient and a non-demented family member bearing wild-type PSEN1
hPSCreg UOWi003-A
Cellosaurus CVCL_VF29
Wikidata Q54991427
Phenomics Australia Phenomics Australia