LEIi023-A

Reviewed by Australian Stem Cell Registry

Alternative Names: 1150ips4

Details

Description

This induced pluripotent stem cell line was reprogrammed from the dermal fibroblasts of a female Retinitis Pigmentosa 11 patient using non-integrating episomal vectors. LEIi023-A is described as having a normal karyotype and a heterozygous variant in the PRPF31 gene which was also present in the donor cells. Expression of OCT4, NANOG, TRA-1-81 and SOX2 in undifferentiated cells, expression of trilineage markers in embryoid bodies, and differentiation to retinal pigment epithelial cells via retinal organoids 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)
retinitis pigmentosa 11

Genetic Information

Genotype Locus
PRPF31
Polymorphism
Heterozygous: NM_015629.3:c.267del p.(Glu89Aspfs*11)

Associated Publications

Journal Year Article
Stem Cell Research 2025 Generation of the induced pluripotent stem cell line LEIi023-A from a rod-cone dystrophy patient carrying the dominant PRPF31 c.267del variant.

Line Custodianship

Cell Line Maintainer

Samuel McLenachan

Affiliated Institutions
  • Lions Eye Institute, Nedlands, Australia
View all cell lines from this group

Cell Line Producer

Lions Eye Institute

Affiliated Institutions
  • Lions Eye Institute, Nedlands, Australia

Source

Donor Derived

Age: 50-54

Biological Sex: Female

Disease: MONDO:0010828
Label: retinitis pigmentosa 11
Definition: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 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: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: 2017

Reprogramming Method

Vector Type: Not integrated

Vector: Episomal

Ethics

Ethics Number: RA/4/1/7916

Institution Human Research Ethics Council: University of Western Australia Human Research Ethics Committee

Approval Date: None

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 6

Karyotype: 46,XX

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina HumanCoreExome-24 Beadchip; resolution 0.5 Mb).

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
TRA-1-81 Immunostaining
NANOG Immunostaining
SOX2 Immunostaining
POU5F1 (OCT-4) RT-PCR
NANOG RT-PCR
SOX2 RT-PCR
KLF4 RT-PCR
MYC 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 spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: SOX17, LEFTY1

Mesoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: HAND1, PAX3

Ectoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: PAX6, OTX1, TUBB3

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: 21%

Medium Items:

  • Base Coat: Geltrex
  • Base Medium: TeSR-E8 - STEMCELL Technologies

Passage Method: Not specified