FINi001-A

Flagged for further review

Alternative Names: FI.SPSM.SCN2A.R1882Q.009; NGF009 c1

Details

Description

This induced pluripotent stem cell line was reprogrammed from the fibroblasts of a female Developmental and Epileptic Encephalopathy patient using self replicating RNA. FINi001-A is described as having a normal karyotype and a heterozygous variant in the SCN2A gene. Expression of OCT4, SSEA-4, NANOG, SOX2 and KLF4 in undifferentiated cells, and in vitro spontaneous differentiation to endoderm, mesoderm have been reported.

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: SCN2A(unspecified reference): p.(Arg1882Gln)

Associated Publications

Journal Year Article
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

Steven 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: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: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

Ethics

Ethics Number: HREC/16/Austin/472

Institution Human Research Ethics Council: The University of Melbourne

Approval Date: None

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 25

Karyotype: 46,XX

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Global Screening Array-24 v2.0) using samples from passage five to eight.

STR analysis Results:

Performed but not available.

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

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: In vitro directed differentiation

Markers: CXCR4, SOX17

Mesoderm

In vitro directed differentiation

Assessed by: In vitro directed differentiation

Markers: TBX6, TBXT

Ectoderm

In vitro directed differentiation

Assessed by: In vitro directed differentiation

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 - Corning

Passage Method: Not specified