Australian Human Pluripotent Stem Cell Registry

HPIi007-A

Extracted from hPSCreg

RYR1-6546-R3B

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 (External Source)

Central core disease of muscle

Genetic Information

Genotype Locus

RYR1

Polymorphism

Heterozygous: NM_000540.3:c.6502G>A(p.Val2168Met)

Associated Publications

Journal	Year	Article
Stem cell research	2024	Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene
Stem Cell Research	2024	Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.

Line Custodianship

Cell Line Maintainer

Clayton-HPI

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

External Cell Line

Genethon

Disease: {{ cell_source.external_cell_line_source.disease_phenotype.name }}

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: EFO:0022546
Label: LCL
Definition: Human cell line from tissue infected with Epstein-Barr virus, resembling a lymphoblast

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

Derivation Year: 2022

Reprogramming Method

Vector Type:

Vector: Sendai Virus

Kit: [kit] CytoTune-iPS 2.0 Sendai reprogramming kit

Detected: {{ details.non_integrated_vector.get_detected_reprogramming_vector_display }}

Ethics

Ethics Number: RA/4/20/1008

Institution Human Research Ethics Council: University of Western Australia Human Research Ethics Committee

Approval Date: To be verified

Modifications

Genomic Modifications

Genotype: RYR1

Polymorphism: Heterozygous: NM_000540.3:c.6502G>A(p.Val2168Met)

Quality Assurance

Genomic Characterisation

Passage Number: 19

Karyotype: 46,XY

Karyotype Method: G-banding

Summary: Karyotyping occurred at a resolution of 400 bphs (15 metaphase spreads were counted, 5 were analyzed).

STR analysis Results:

Performed but not available.

Microbiology and Virology Screening

Disease	Result
Mycoplasma	Negative

Characterisation of Undifferentiated Cells

Marker	Method
OCT4	Immunostaining
SOX2	Immunostaining
SSEA-4	Immunostaining
TRA-1-60	Immunostaining
CRIPTO	RT-qPCR
NANOG	RT-qPCR
OCT4	RT-qPCR
SOX2	RT-qPCR

Scorecard Results

Undifferentiated Cells

No available data for this cell line.