MCRIi019-A-6

Not yet reviewed by Australian Stem Cell Registry

1502.3 COL2A1 p.R719C, 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

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: To be verified

Modifications

Genomic Modifications

Heterozygous: unspecified_reference_COL2A1:c.2155C>T(p.Arg719Cys)

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.

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 X None
D3S1358 15 17.0
D1S1656 14 15.0
D2S441 11 None
D10S1248 12 14.0
D13S317 12 None
PENTA E 11 12.0
D16S539 10 11.0
D18S51 15 19.0
D2S1338 19 None
CSF1PO 10 13.0
PENTA D 12 None
TH01 8 10.0
VWA 17 18.0
D21S11 28 29.0
D7S820 9 10.0
D5S818 13 None
TPOX 8 9.0
DYS391 None None
D8S1179 12 13.0
D12S391 16 20.0
D19S433 11 14.0
FGA 22 27.0
D22S1045 15 17.0

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