LEIi014-C

Reviewed by Australian Stem Cell Registry

Alternative Names: 1012ips11

Details

Description

This induced pluripotent stem cell line was derived by using episomal vectors to reprogram dermal fibroblasts from a female Usher Syndrome type 2 patient. LEIi014-C is described as having a normal karyotype and compound heterozygous variants in the USH2A gene. Expression of OCT4, NANOG, TRA-1-81, SOX2, MYC and KLF4 in undifferentiated cells and in vitro spontaneous differentiation to endoderm, mesoderm and ectoderm have been reported. The donor of LEIi014-C is reported to be a sibling of the donor of LEIi010-A and LEIi010-B.

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 2020 Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene

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: 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: 2018

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 Infinium Human CytoSNP-12; 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
TRA-1-81 Immunostaining
KLF4 RT-PCR
MYC RT-PCR
NANOG RT-PCR
POU5F1 (OCT-4) 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: GATA2, SOX7

Mesoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: DCN, IGF2

Ectoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: OTX1, PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Medium: mTeSR1 - STEMCELL Technologies
  • Base Coat: Geltrex - Thermo Fisher Scientific Inc.

Passage Method: Enzyme-free cell dissociation