MCRIi019-A-7

Not yet reviewed by Australian Stem Cell Registry

1502.3 COL2A1 p.G1113C, 1502-COL2A1 p.G1113C, COL2A1 p.G1113C

Details

Tissue & Disease as reported

Disease as reported (Genomic Modifications)
achondrogenesis type ii (Isogenic modification)

Genetic Information

Genotype Locus
COL2A1
Polymorphism
Heterozygous: unspecified_reference_COL2A1:c.3397GGC>TGC(p.Gly1113Cys)
Modifications
Isogenic modification

Associated Publications

Journal Year Article
International journal of molecular sciences 2024 Advanced Cellular Models for Rare Disease Study: Exploring Neural, Muscle and Skeletal Organoids
Trends in biotechnology 2023 Synovial joint-on-a-chip for modeling arthritis: progress, pitfalls, and potential
Proceedings of the National Academy of Sciences of the United States of America 2023 Modeling human skeletal development using human pluripotent stem cells
Stem cell research 2021 Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing
Stem Cell Research 2021 Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing.

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: 33118

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.3337G>T(p.Gly1113Cys)

Introduction of heterozygous COL2A1 c.3397GGC>TGC (p.Gly1113Cys) variant was reported.

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 ((Illumina Infinium CoreExome-24 v1.1; resolution 0.5 Mb). SNPduo comparison to parental cell (>99.9% identity).

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
NANOG Immunostaining
POU5F1 (OCT-4) Immunostaining
OCT3/4 Flow cytometry
SSEA-4 Flow cytometry
TRA-1-60 Flow cytometry

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: RT-PCR

Markers: SOX17

Mesoderm

In vitro directed differentiation

Assessed by: RT-PCR

Markers: COL2A1;FOXC2;MEOX1;SOX9

Ectoderm

In vitro directed differentiation

Assessed by: RT-PCR

Markers: 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

External References

Source
International journal of molecular sciences Advanced Cellular Models for Rare Disease Study: Exploring Neural, Muscle and Skeletal Organoids
Trends in biotechnology Synovial joint-on-a-chip for modeling arthritis: progress, pitfalls, and potential
Proceedings of the National Academy of Sciences of the United States of America Modeling human skeletal development using human pluripotent stem cells
Stem cell research Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing
Stem Cell Research Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing.
hPSCreg MCRIi019-A-7
Cellosaurus CVCL_A1QP
Wikidata Q102114512
Phenomics Australia Phenomics Australia