LEIi007-A

Reviewed by Australian Stem Cell Registry

Alternative Names: 1082ips10; 1082IPS10

Details

Description

This induced pluripotent stem cell line was derived by using episomal vectors to reprogram dermal fibroblasts from a female Stargardt Macular Dystrophy patient. LEIi007-A is described as having a normal karyotype and compound heterozygous variants in the ABCA4 gene. Expression of OCT4, NANOG, KLF4, TRA-1-81 and SOX2 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.[4139C>T], [5461-10T>C]

Associated Publications

Journal Year Article
Stem cell research 2019 Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy

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: 15-19

Biological Sex: Female

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: 2018

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: Not available

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
KLF4 Immunostaining
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: BMP4, DCN, GATA2, IGF2

Ectoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: DCX, PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: Unavailable

O2 concentration: Unavailable

Medium Items:

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

Passage Method: Not specified