MCRIi028-A-1

Not yet reviewed by Australian Stem Cell Registry

COL6.22c

Details

Tissue & Disease as reported

Disease as reported (Genomic Modifications)

Genetic Information

Genotype Locus
COL6A1
Polymorphism
Heterozygous: unspecified_reference_COL6A1:c.1056+2=
Modifications
Isogenic modification

Associated Publications

Journal Year Article
Stem Cell Research 2025 Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient.

Line Custodianship

Cell Line Maintainer

Houweling

Affiliated Institutions
  • Murdoch Children's Research Institute, Melbourne, Australia
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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: 38192A

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

Approval Date: To be verified

Modifications

Genomic Modifications

Heterozygous: unspecified_reference_COL6A1:c.1056+2=

Correction of Heterozygous: unspecified_reference_COL6A1:c.1056+2T>A variant present in the donor cell. Synonymous changes were also introduced. Correction and the absence of off-target mutations were confirmed by PCR and Sanger sequencing.

Cytoband: 21q22.3
Mutation Type: Isogenic modification
Delivery Method: CRISPR/Cas9

Quality Assurance

Genomic Characterisation

Passage Number: Not available

Karyotype: arr(1-22,X)x2

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Infinium GSA-24 v2.0).

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
NANOG Immunostaining
POU5F1 (OCT-4) Immunostaining
POU5F1 (OCT-4) ddPCR
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: ddPCR

Markers: SOX17

Mesoderm

In vitro directed differentiation

Assessed by: ddPCR

Markers: Brachyury;CXCR4

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