MCRIi019-A-6

Not yet reviewed by Australian Stem Cell Registry

Alternative Names: COL2A1 p.R719C; 1502.3 COL2A1 p.R719C; 1502-COL2A1 p.R719C

Details

Tissue & Disease as reported

Disease as reported (Genomic Modifications)
mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis (Isogenic modification)

Genetic Information

Genotype Locus
COL2A1
Polymorphism
Heterozygous: unspecified_reference_COL2A1:c.2155C>T(p.Arg719Cys)
Modifications
Isogenic modification

Associated Publications

Journal Year Article
Stem cell research 2023 Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis
Stem Cell Research 2023 Using CRISPR/Cas9 to generate a heterozygous COL2A1 p.R719C iPSC line (MCRIi019-A-6) model of human precocious osteoarthritis.

Line Custodianship

Cell Line Maintainer

Shireen Lamandé

Affiliated Institutions
  • Murdoch Children's Research Institute, Melbourne, Australia
View all cell lines from this group

Cell Line Producer

Murdoch Children's Research Institute

Affiliated Institutions
  • Murdoch Children's Research Institute, Melbourne, Australia

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: N/A

Source Cell Origin: N/A

Derivation Year:

Ethics

Ethics Number: 35121A

Institution Human Research Ethics Council: Royal Children's Hospital Human Research Ethics Committee

Approval Date: None

Modifications

Genomic Modifications

COL2A1

Heterozygous COL2A1 c.2155C>T (p.Arg719Cys) variant was introduced to COL2A1 exon 33 to generate a model of Osteoarthritis with Mild Chondrodysplasia. A synonymous change was also introduced.

Genotype: Heterozygous: unspecified_reference_COL2A1:c.2155C>T(p.Arg719Cys)
Cytoband: 12q13.11
Mutation Type: Isogenic modification
Delivery Method: CRISPR/Cas9

Quality Assurance

Genomic Characterisation

Passage Number: 24

Karyotype: arr(1-22,X)x2

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (resolution 0.5 Mb). SNPduo comparison to parental cell (>99.9% identity).

STR analysis Results:

Loci Allele 1 Allele 2
Amelogenin None None
D3S1358 None None
D1S1656 None None
D2S441 None None
D10S1248 None None
D13S317 None None
PENTA E None None
D16S539 None None
D18S51 None None
D2S1338 None None
CSF1PO None None
PENTA D None None
TH01 None None
VWA None None
D21S11 None None
D7S820 None None
D5S818 None None
TPOX None None
DYS391 None None
D8S1179 None None
D12S391 None None
D19S433 None None
FGA None None
D22S1045 None None

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
NANOG Immunostaining
POU5F1 (OCT-4) Immunostaining

Scorecard Results

Undifferentiated Cells

No available data for this cell line.

Pluripotency

No available data for this cell line.

Pluripotency Characterisation

Endoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: SOX17

Mesoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: Brachyury

Ectoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: NES;PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

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

Passage Method: Enzyme-free cell dissociation