FINi003-A

Not yet reviewed by Australian Stem Cell Registry

NGF008 c3, FI.SPSM.SCN2A.E1211K.008

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)
developmental and epileptic encephalopathy

Genetic Information

Genotype Locus
SCN2A
Polymorphism
Heterozygous: unspecified_reference_SCN2A:p.Glu1211Lys

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 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

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: 5-9

Biological Sex: Male

Disease: MONDO:0100620
Label: developmental and epileptic encephalopathy
Definition: An epilepsy associated with developmental impairment that may be due to either the underlying etiology or the superimposed epileptic activity, or both.

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: 2023

Reprogramming Method

Vector Type:

Vector: Other

Kit: [kit] ReproRNA-OKSGM

Detected: Unknown

Ethics

Ethics Number: HREC/16/ Austin/472

Institution Human Research Ethics Council: The University of Melbourne Human Research Ethics Committee

Approval Date: To be verified

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 8

Karyotype: arr(1-22)x2,(XY)x1

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Global Screening Array 24, v.2.0).

STR analysis Results:

Performed but not available.

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
NANOG Immunostaining
SSEA-4 Immunostaining
KLF4 RT-PCR
NANOG RT-PCR
POU5F1 RT-PCR
SOX2 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: Unavailable

O2 concentration: Unavailable

Medium Items:

  • Base Medium: mTeSR Plus - STEMCELL Technologies
  • Base Coat: Matrigel (hESC Qualified) - Corning

Passage Method: Enzymatically

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 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
hPSCreg FINi003-A
Cellosaurus CVCL_C8SP
Wikidata Q123031282
Phenomics Australia Phenomics Australia