MCRIi028-A

Not yet reviewed by Australian Stem Cell Registry

COL6.4u

Details

Tissue & Disease as reported

Biopsy Location
Ontology ID: fma9670
Label: Portion of blood
Definition: Portion of body substance which has as its parts plasma and blood cells.
Tissue for derived iPSC
Disease as reported (Donor)
bethlem myopathy

Genetic Information

Genotype Locus
COL6A1
Polymorphism
Heterozygous: unspecified_reference_COL6A1:c.1056+2T>A

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
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: 15-19

Biological Sex: Female

Disease: MONDO:0008029
Label: Bethlem myopathy
Definition: A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: CL:2000001
Label: peripheral blood mononuclear cell
Definition: A leukocyte with a single non-segmented nucleus in the mature form found in the circulatory pool of blood.

Source Cell Origin: UBERON:0000178
Label: blood
Definition: A fluid that is composed of blood plasma and erythrocytes.

Derivation Year: 2020

Ethics

Ethics Number: 38192A

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

Approval Date: To be verified

Modifications

No genomic modifications available for this line.

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