FINi001-A

Not yet reviewed by Australian Stem Cell Registry

FI.SPSM.SCN2A.R1882Q.009, NGF009 c1

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)
genetic developmental and epileptic encephalopathy

Genetic Information

Genotype Locus
SCN2A
Polymorphism
Heterozygous: unspecified_reference_SCN2A: p.Arg1882Gln

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
Stem cell research 2023 Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Na(v)1.2 protein encoded by the SCN2A gene

Line Custodianship

Cell Line Maintainer

Petrou

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: 1-4

Biological Sex: Female

Disease: MONDO:0100062
Label: genetic developmental and epileptic encephalopathy
Definition: A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.

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: Other

Kit: [kit] ReproRNA-OKSGM

Detected: No

Ethics

Ethics Number: HREC/16/Austin/472

Institution Human Research Ethics Council: The University of Melbourne

Approval Date: To be verified

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 5

Karyotype: 46, XX

Karyotype Method: Molecular karyotyping by SNP array

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

STR analysis Results:

Loci Allele 1 Allele 2
AMEL X X
CSF1PO 10 12
D13S317 8 12
D16S539 9 12
D21S11 30.2 32.2
D5S818 11 13
D7S820 10 12
TH01 7 7
TPOX 8 8
VWA 14 17

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
POU5F1 (OCT-4) RT-PCR
NANOG Immunostaining
NANOG RT-PCR
SSEA-4 Immunostaining
SOX2 RT-PCR
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 Medium: mTeSR Plus - STEMCELL Technologies
  • Base Coat: Matrigel - Corning

Passage Method: Enzyme-free cell dissociation

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
Stem cell research Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Na(v)1.2 protein encoded by the SCN2A gene
hPSCreg FINi001-A
Cellosaurus CVCL_C8H7
BioSamples SAMEA112835221
Wikidata Q123031279
Phenomics Australia Phenomics Australia