LEIi012-A

Reviewed by Australian Stem Cell Registry

Alternative Names: 1357ips5; 012-A

Details

Description

This induced pluripotent stem cell line was derived by using episomal vectors to reprogram dermal fibroblasts from a male Stargardt Macular Dystrophy patient. LEIi012-A is described as having a normal karyotype and compound heterozygous variants in the ABCA4 gene. Expression of OCT4, NANOG, TRA-1-81, SOX2 and KLF4 in undifferentiated cells and in vitro spontaneous differentiation to endoderm, mesoderm and ectoderm 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)
stargardt disease

Genetic Information

Genotype Locus
ABCA4
Polymorphism
Compound heterozygous: NM_000350.2:c.[768G>T], [6079C>T]

Associated Publications

Journal Year Article
Stem cell research 2020 Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4

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: 30-34

Biological Sex: Male

Disease: MONDO:0019353
Label: Stargardt disease
Definition: Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

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: 2001-053

Institution Human Research Ethics Council: Sir Charles Gairdner Hospital Human Research Ethics Committee

Approval Date: None

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 11

Karyotype: 46,XY

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Infinium Human CytoSNP-12; 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
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 spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: AFP

Mesoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: GATA2, IGF2

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

Passage Method: Enzyme-free cell dissociation