LEIi018-A

Not yet reviewed by Australian Stem Cell Registry

1607ips6

Details

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: unspecified_reference_ABCA4:c.[5461–10T>C;5603A>T];[6077T>C]

Associated Publications

Journal Year Article
Stem Cell Research 2021 Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.
Stem cell research 2021 Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene

Line Custodianship

Cell Line Maintainer

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: 20-24

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: 2020

Reprogramming Method

Vector Type:

Vector: Episomal

Kit: [kit] Epi5 Episomal iPSC Reprogramming Kit

Detected: No

Ethics

Ethics Number: RA/4/1/7916

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

Approval Date: To be verified

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 16

Karyotype: arr(1-22)x2,(XY)x1

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Infinium 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
KLF4 RT-PCR
MYC 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: RT-PCR

Markers: AFP;FOXA2;SOX17

Mesoderm

In vitro spontaneous differentiation

Assessed by: RT-PCR

Markers: NKX2.5;TBXT

Ectoderm

In vitro spontaneous differentiation

Assessed by: RT-PCR

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: Enzymatically

External References

Source
Stem Cell Research Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.
Stem cell research Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene
hPSCreg LEIi018-A
Cellosaurus CVCL_A8MK
Wikidata Q108820786
Phenomics Australia Phenomics Australia