LEIi016-A

Not yet reviewed by Australian Stem Cell Registry

1418ips3

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)
retinitis pigmentosa 12

Genetic Information

Genotype Locus
CRB1
Polymorphism
Compound heterozygous: NM_201253.3:c.[2555T>C];[3014A>T]

Associated Publications

Journal Year Article
Cell communication and signaling : CCS 2024 Diverse functions and pathogenetic role of Crumbs in retinopathy
Stem cell research 2021 Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1
Stem Cell Research 2021 Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1.

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: 10-14

Biological Sex: Male

Disease: MONDO:0010818
Label: retinitis pigmentosa 12
Definition: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene.

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: 11

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
NANOG Immunostaining
POU5F1 (OCT-4) Immunostaining
SOX2 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: DCX;PAX6

Mesoderm

In vitro spontaneous differentiation

Assessed by: RT-PCR

Markers: DCN;IGF2;NKX2.5;TBXT

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Medium: mTeSR Plus - STEMCELL Technologies
  • Base Coat: Geltrex - Thermo Fisher Scientific Inc.

Passage Method: Enzymatically

External References

Source
Cell communication and signaling : CCS Diverse functions and pathogenetic role of Crumbs in retinopathy
Stem cell research Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1
Stem Cell Research Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1.
hPSCreg LEIi016-A
Cellosaurus CVCL_A8MG
Wikidata Q108820782
Phenomics Australia Phenomics Australia