MCRIi001-B

Not yet reviewed by Australian Stem Cell Registry

COL2A1 p.R989C, MCRIi001-A-SOX9tdTom-COL2A1p.R989C, PB001-SOX9tdTom-COL2A1p.R989C , PB001-SOX9tdTom- COL2A1p.R989C

Details

Tissue & Disease as reported

Disease as reported (Genomic Modifications)
spondyloepiphyseal dysplasia congenita (Isogenic modification)

Genetic Information

Genotype Locus
COL2A1
Polymorphism
Heterozygous: unspecified_reference_COL2A1:c.2965C>T(p.Arg989Cys)
Modifications
Isogenic modification

Associated Publications

Journal Year Article
Seminars in cell & developmental biology 2022 Developmental principles informing human pluripotent stem cell differentiation to cartilage and bone
Journal of clinical laboratory analysis 2021 A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
Stem cell research 2020 Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing
Stem Cell Research 2020 Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, 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: 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.2965C>T(p.Arg989Cys)

Heterozygous COL2A1 c.2965C>T (p.Arg989Cys) variant was introduced to COL2A1 exon 43 to generate a model of Spondyloepiphyseal Dysplasia. Synonymous changes were also introduced.

Cytoband: 12q13.11
Mutation Type: Isogenic modification
Delivery Method: CRISPR/Cas9

Quality Assurance

Genomic Characterisation

Passage Number: 9

Karyotype: arr(1-22)x2,(XY)x1

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
CD9 Flow cytometry
EPCAM Flow cytometry
SSEA-4 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 vivo teratoma

Assessed by: Immunostaining

Markers: HNF4A

Mesoderm

In vivo teratoma

Assessed by: Immunostaining

Markers: COL2A1

Ectoderm

In vivo teratoma

Assessed by: Immunostaining

Markers: MAP2

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Medium: DMEM/F-12 (Dulbecco's Modified Eagle Medium/Nutrient Mixture F-12) - Thermo Fisher Scientific Inc.
  • Serum: Knock-out Serum Replacement - Thermo Fisher Scientific Inc.
  • Supplement: Non-Essential Amino Acids - Thermo Fisher Scientific Inc.
  • Supplement: GlutaMAX - Thermo Fisher Scientific Inc.
  • Supplement: 2-mercaptoethanol - Thermo Fisher Scientific Inc.
  • Supplement: Fibroblast growth factor 2, Peprotech - Thermo Fisher Scientific Inc.
  • Base Coat: Mouse embryonic fibroblasts

Passage Method: Enzyme-free cell dissociation

External References

Source
Seminars in cell & developmental biology Developmental principles informing human pluripotent stem cell differentiation to cartilage and bone
Journal of clinical laboratory analysis A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family
Stem cell research Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing
Stem Cell Research Generation of a heterozygous COL2A1 (p.R989C) spondyloepiphyseal dysplasia congenita mutation iPSC line, MCRIi001-B, using CRISPR/Cas9 gene editing.
hPSCreg MCRIi001-B
Cellosaurus CVCL_ZA74
BioSamples SAMEA7211802
Wikidata Q98127124
Phenomics Australia Phenomics Australia