LEIi017-B

Not yet reviewed by Australian Stem Cell Registry

1629ips11

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: NM_000350.2:c.[5461-10T>C;5603A>T];[4163T>C;455G>A]

Associated Publications

Journal Year Article
Stem cell research 2021 Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene
Stem Cell Research 2021 Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous 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: 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: 2020

Reprogramming Method

Vector Type: Not integrated

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: 12

Karyotype: arr(1-22,X)x2

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (resolution 0.5 Mb).

STR analysis Results:

Loci Allele 1 Allele 2
AMEL X X
CSF1PO 10 10
D13S317 11 12
D16S539 9 11
D18S51 14 23
D21S11 29 30
D3S1358 14 18
D5S818 11 12
D7S820 8 9
D8S1179 14 14
FGA 20 23
PENTA D 13 14
PENTA E 12 16
TH01 8 9.3
TPOX 9 11
VWA 19 19

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
KLF4 RT-PCR
MYC RT-PCR
NANOG RT-PCR
POU5F1 (OCT-4) RT-PCR
SOX2 RT-PCR
KLF4 Immunostaining
NANOG Immunostaining
POU5F1 (OCT-4) Immunostaining
SOX2 Immunostaining

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;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