MCRIi018-A

Extracted from hPSCreg

OI64-mut, OI64-mutant

Details

Tissue & Disease as reported

Disease as reported (Donor)
Osteogenesis Imperfecta

Genetic Information

Genotype Locus
COL1A1
Polymorphism
Heterozygous: unspecified_reference_COL1A1:c.3936G>T(p.Trp1312Cys)

Associated Publications

Journal Year Article
Proceedings of the National Academy of Sciences of the United States of America 2023 Modeling human skeletal development using human pluripotent stem cells
International journal of molecular sciences 2020 Versatility of Induced Pluripotent Stem Cells (iPSCs) for Improving the Knowledge on Musculoskeletal Diseases
Stem cell research 2019 The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line
Stem Cell Research 2019 The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line.

Line Custodianship

Cell Line Maintainer

Bateman-MCRI

View all cell lines from this group

Cell Line Producer

Murdoch Children's Research Institute

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

Source

Donor Derived

Age: Neonate

Biological Sex: Female

Disease: MONDO:0008147
Label: osteogenesis imperfecta type 2
Definition: Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

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: N/A

Derivation Year: 2017

Reprogramming Method

Vector Type:

Vector: Episomal

Kit: pEP4 E02S ET2K [https://www.addgene.org/20927/]

Detected: {{ details.non_integrated_vector.get_detected_reprogramming_vector_display }}

Ethics

Ethics Number: 33118A

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

Approval Date: To be verified

Modifications

Genomic Modifications

Genotype: COL1A1
Polymorphism: Heterozygous: unspecified_reference_COL1A1:c.3936G>T(p.Trp1312Cys)

Quality Assurance

Genomic Characterisation

Passage Number: 4

Karyotype: arr(1-22,X)x2

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Infinium GSA-24 v1.0; resolution 0.5 Mb). SNPduo comparison of MCRIi018-A to MCRIi018-B (>99.9% identity).

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
NANOG Immunostaining
OCT4 Immunostaining
CD9 Flow cytometry
TRA-1-81 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: Immunostaining

Markers: SOX17

In vitro directed differentiation

Assessed by: Flow cytometry

Markers: CXCR4; EPCAM

Mesoderm

In vitro directed differentiation

Assessed by: Flow cytometry

Markers: CD45

Ectoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: NES; PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: Unavailable

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
Proceedings of the National Academy of Sciences of the United States of America Modeling human skeletal development using human pluripotent stem cells
International journal of molecular sciences Versatility of Induced Pluripotent Stem Cells (iPSCs) for Improving the Knowledge on Musculoskeletal Diseases
Stem cell research The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line
Stem Cell Research The use of simultaneous reprogramming and gene correction to generate an osteogenesis imperfecta patient COL1A1 c. 3936 G>T iPSC line and an isogenic control iPSC line.
hPSCreg MCRIi018-A
Cellosaurus CVCL_WN58
BioSamples SAMEA7211803
Wikidata Q95987018
Phenomics Australia Phenomics Australia