LEIi010-B

Not yet reviewed by Australian Stem Cell Registry

1011ips2

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)
usher syndrome type 2

Genetic Information

Genotype Locus
USH2A
Polymorphism
Compound heterozygous: NM_206933.2:c.[949C>A];[1256G>T]

Associated Publications

Journal Year Article
Stem cell research 2019 Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene
Stem cell research 2019 Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations
Stem Cell Research 2019 Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A 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:0016484
Label: Usher syndrome type 2
Definition: A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.

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: 2016

Reprogramming Method

Vector Type:

Vector: Episomal

Kit: [kit] Episomal iPSC Reprogramming Plasmids

Detected: No

Ethics

Ethics Number: 2001–053

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

Approval Date: To be verified

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: Not available

Karyotype: arr(1-22,X)x2

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina HumanCoreExome-24; resolution 0.5 Mb).

STR analysis Results:

Loci Allele 1 Allele 2
CSF1PO None None
D13S317 None None
D16S539 None None
D18S51 None None
D21S11 None None
D3S1358 None None
D5S818 None None
D7S820 None None
D8S1179 None None
FGA None None
PENTA D None None
PENTA E None None
TH01 None None
TPOX None None
VWA None None
Amelogenin None None

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
NANOG Immunostaining
POU5F1 (OCT-4) Immunostaining
SOX2 Immunostaining
SSEA-4 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: RT-PCR

Markers: AFP;SOX7

Mesoderm

In vitro spontaneous differentiation

Assessed by: RT-PCR

Markers: TBXT

Ectoderm

In vitro spontaneous differentiation

Assessed by: RT-PCR

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

External References

Source
Stem cell research Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene
Stem cell research Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations
Stem Cell Research Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene.
hPSCreg LEIi010-B
Cellosaurus CVCL_WJ44
BioSamples SAMEA5696685
Wikidata Q95982060
Phenomics Australia Phenomics Australia