FINi002-A

Not yet reviewed by Australian Stem Cell Registry

FI.CPLT.PRKN.R275W+del_e8.PK006, PK6 C4

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)
parkinson disease

Genetic Information

Genotype Locus
PRKN
Polymorphism
Compound heterozygous: unspecified_reference_PRKN:p.Arg275Trp; and: unspecified_reference_PRKN:133kb deletion encompassing exon 8.

Associated Publications

Journal Year Article
Stem cell research 2024 An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Na(v)1.2
Stem cell research 2023 Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene
2021 10.17504/protocols.io.bypqpvmw

Line Custodianship

Cell Line Maintainer

Parish

Affiliated Institutions
  • The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia
View all cell lines from this group

Cell Line Producer

The Florey Institute of Neuroscience and Mental Health

Affiliated Institutions
  • The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia

Source

Donor Derived

Age: 45-49

Biological Sex: Male

Disease: MONDO:0005180
Label: Parkinson disease
Definition: A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.

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: 2023

Reprogramming Method

Vector Type: Not integrated

Vector: Sendai Virus

Kit: [kit] CytoTune-iPS 2.0 Sendai reprogramming kit

Detected: No

Ethics

Ethics Number: 1 378 1300

Institution Human Research Ethics Council: Institutional Review Board - Mater Misericordia University Hospital, Dublin, Ireland

Approval Date: To be verified

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 5

Karyotype: 46, XY

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Global Screening Array-24 v2.0)

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
POU5F1 (OCT-4) RT-PCR
NANOG RT-PCR
NANOG Immunostaining
KLF4 RT-PCR
POU5F1 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: RT-PCR

Markers: CXCR4;SOX17

Mesoderm

In vitro directed differentiation

Assessed by: RT-PCR

Markers: TBX6;TBXT

Ectoderm

In vitro directed differentiation

Assessed by: RT-PCR

Markers: OTX2;PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: 20%

Medium Items:

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

Passage Method: Mechanically

External References

Source
Stem cell research An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Na(v)1.2
Stem cell research Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene
10.17504/protocols.io.bypqpvmw
hPSCreg FINi002-A
Cellosaurus CVCL_C8H8
BioSamples SAMEA112835223
Wikidata Q123031280
Phenomics Australia Phenomics Australia