LEIi020-B

Reviewed by Australian Stem Cell Registry

Alternative Names: 1049ips9

Details

Description

This induced pluripotent stem cell line was derived by using episomal vectors to reprogram dermal fibroblasts from a male Usher Syndrome type 1B (USH1B) patient. LEIi020-B is described as having a 1MB duplication in chromosome 8p21.2 and a homozygous variant in the MYO7A gene. This duplication and variant were also present in the donor fibroblasts. Expression of OCT4, NANOG, SOX2, MYC and SSEA-4 in undifferentiated cells and in vitro spontaneous 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
Disease as reported (Donor)
usher syndrome type 1b

Genetic Information

Genotype Locus
MYO7A
Polymorphism
Homozygous: NM_000260.3:c.496del(NP_000251.3:p.Glu166Argfs*5)

Associated Publications

Journal Year Article
Stem Cell Research 2024 Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A 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: 35-39

Biological Sex: Male

Disease: MONDO:0700087
Label: Usher syndrome type 1B
Definition: Usher syndrome in which the cause of the disease is a mutation in the MYO7A 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

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: Not available

Karyotype: 46,XY,dup(8)(p21.2)

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina).

STR analysis Results:

Performed but not available.

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
POU5F1 (OCT-4) Immunostaining
NANOG Immunostaining
SOX2 Immunostaining
SSEA-4 Immunostaining
MYC 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: In vitro spontaneous differentiation

Markers: CDX2, LEFTY1, PDX1

Mesoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: HAND1, TBX6, TBXT

Ectoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: RBFOX3, PAX6, TUBB3

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Medium: TeSR-E8 - STEMCELL Technologies
  • Base Coat: Geltrex

Passage Method: Enzymatically