LEIi009-A

Flagged for further review

Alternative Names: 1374ips1; 1374IPSC_1P10

Details

Description

This induced pluripotent stem cell line was derived by using episomal vectors to reprogram dermal fibroblasts from a female non-penetrant carrier of a PRPF31 gene variant. This variant was demonstrated in the donor fibroblasts and is assumed but not confirmed in LEIi009-A. LEIi009-A is described as having a normal karyotype. Expression of OCT4, NANOG, KLF4, 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. Note that the donor of LEIi009-A is the mother of the donor of LEIi008-A (who carries the same variant and is affected by Retinitis Pigmentosa 11), and also appears to be the mother of the donor of LEIi021-A and LEIi021-B (no recorded variant or disease).

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

Genetic Information

Genotype Locus
PRPF31
Polymorphism
Heterozygous: NM_015629.3:c.1205C>A p.(Ser402Ter)

Associated Publications

Journal Year Article
Stem cell research 2019 Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier

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

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: 10

Karyotype: 46,XX

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina HumanCoreExome-24; 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
NANOG Immunostaining
POU5F1 (OCT-4) Immunostaining
SOX2 Immunostaining
TRA-1-81 Immunostaining
KLF4 RT-PCR
NANOG RT-PCR
POU5F1 (OCT-4) 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: AFP

Mesoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: DCN, GATA2

Ectoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: OTX1, PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Coat: Geltrex - Thermo Fisher Scientific Inc.
  • Base Medium: TeSR-E8 - STEMCELL Technologies

Passage Method: Enzyme-free cell dissociation