HPIi005-A

Extracted from hPSCreg

RYR1-5-9214-iPSC clone R5

Details

Tissue & Disease as reported

Disease as reported (Donor)
Central core disease
Disease as reported (Genomic Modifications)
Central core disease (Variant)

Genetic Information

Modifications
Variant

Associated Publications

Journal Year Article
Stem cell research 2023 Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene

Line Custodianship

Cell Line Maintainer

Harry Perkins Institute of Medical Research

View all cell lines from this group

Cell Line Producer

Harry Perkins Institute of Medical Research

Affiliated Institutions
  • Harry Perkins Institute of Medical Research, Nedlands, Australia

Source

Donor Derived

Age: 30-34

Biological Sex: Male

Disease: MONDO:0007294
Label: central core myopathy
Definition: An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: CL:0017005
Label: lymphoblast
Definition: A lymphocyte that has gotten larger after being stimulated by an antigen.

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

Derivation Year:

Reprogramming Method

Vector Type: Not integrated

Vector: Sendai Virus

Ethics

Ethics Number: Est IV DC-2012-1693

Institution Human Research Ethics Council: ComiteĢ de Protection des Personnes

Approval Date: To be verified

Modifications

Genomic Modifications

Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.

Cytoband: 19q13.2
Mutation Type: Variant

Quality Assurance

Genomic Characterisation

Passage Number: 17

Karyotype: 46, XY

Karyotype Method: G-banding

STR analysis Results:

Performed but not available.

Genome wide or Functional Assay:

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
SOX2 RT-PCR
SOX2 Immunostaining
POU5F1 (OCT-4) RT-PCR
POU5F1 (OCT-4) Immunostaining
SSEA-4 Immunostaining
TRA 1-60 Immunostaining
NANOG RT-PCR
CRIPTO RT-PCR

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: Unavailable

Markers: SOX17;GATA4

Mesoderm

In vitro directed differentiation

Assessed by: Unavailable

Markers: TBXT;BMP4

Ectoderm

In vitro directed differentiation

Assessed by: Unavailable

Markers: OTX2;PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: 20%

Medium Items:

Passage Method: Enzyme-free cell dissociation