LEIi022-A

Reviewed by Australian Stem Cell Registry

Alternative Names: CMRIi0032-A-1; 1765ips1; CDH23-1

Details

Description

This induced pluripotent stem cell line was reprogrammed from fibroblasts using episomal vectors. The male donor of LEIi022-A carries a heterozygous variant in the CDH23 gene which is also present in LEIi022-A. Homozygous and compound heterozygous CDH23 variants have been linked to Usher Syndrome Type 1D (USH1D). This donor is reported to be unaffected, however two of his children have been diagnosed with USH1D having inherited distinct maternal and paternal CHD23 variants. Expression of OCT4, NANOG, SOX2, LIN28, MYC and KLF4 in undifferentiated cells, and directed differentiation to endoderm, mesoderm and ectoderm have been reported.

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

Genetic Information

Genotype Locus
CDH23
Polymorphism
Heterozygous: NM_022124.6:c.1515-12G>A

Associated Publications

Journal Year Article
Stem Cell Research 2025 Generation of two induced pluripotent stem cell lines carrying the CDH23 c.1515-12G > A variant

Line Custodianship

Cell Line Maintainer

Samuel 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: 45-49

Biological Sex: Male

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: 2023

Reprogramming Method

Vector Type: Not integrated

Vector: Episomal

Ethics

Ethics Number: RA/4/1/7916

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

Approval Date: None

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 29

Karyotype: 46,XY

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Infinium GSA-24 v3.0; 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
LIN28A Immunostaining
NANOG Immunostaining
POU5F1 (OCT-4) Immunostaining
SOX2 Immunostaining
POU5F1 (OCT-4) RT-PCR
NANOG RT-PCR
SOX2 RT-PCR
MYC RT-PCR
KLF4 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: SOX17, FOXA2, LEFTY1, PDX1

Mesoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: HAND1, PAX3, NKX2-5

Ectoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: OTX1, TUBB3, PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: 21%

Medium Items:

  • Base Coat: Geltrex - Thermo Fisher Scientific Inc.
  • Base Medium: Essential 8 Medium - Thermo Fisher Scientific Inc.

Passage Method: Not specified