LEIi006-A

Flagged for further review

Alternative Names: 1004CRB1iPS6

Details

Description

This induced pluripotent stem cell line was derived by using episomal vectors to reprogram dermal fibroblasts from a female adult onset Retinitis Pigmentosa patient. LEIi006-A is described as having a normal karyotype and compound heterozygous variants in the CRB1 gene. Expression of OCT4, NANOG, SOX2, KLF4, SSEA-4 and MYC in undifferentiated cells has been reported, as have trilineage differentiation in embryoid bodies and directed differentiation to retinal organoids.

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)
retinitis pigmentosa

Genetic Information

Genotype Locus
CRB1
Polymorphism
Compound heterozygous: NM_201253.2:c.1892A>G(p.Tyr631Cys), and: NM_201253.2:c.2548G>A(p.Gly850Ser)

Associated Publications

Journal Year Article
Molecular genetics & genomic medicine 2020 Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants
Stem cell research 2018 Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation

Line Custodianship

Cell Line Maintainer

Fred Chen

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: 50-54

Biological Sex: Female

Disease: MONDO:0019200
Label: retinitis pigmentosa
Definition: Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

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: 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: Not available

Karyotype: 46,XX

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina HumanCoreExome-24 Beadchip; 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
NANOG RT-PCR
POU5F1 (OCT-4) Immunostaining
POU5F1 (OCT-4) RT-PCR
SOX2 Immunostaining
SOX2 RT-PCR
SSEA-4 Immunostaining
KLF4 Immunostaining
MYC 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: FOXA2, GATA4, SOX17

Mesoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: TBXT

Ectoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: OTX1, PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: Unavailable

O2 concentration: Unavailable

Medium Items:

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

Passage Method: Not specified

External References

Source
Molecular genetics & genomic medicine Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants
Stem cell research Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation
hPSCreg LEIi006-A
Cellosaurus CVCL_VN41
BioSamples SAMEA4760627
Wikidata Q95982054
Phenomics Australia Phenomics Australia