Australian Human Pluripotent Stem Cell Registry

HPIi002-B

Extracted from hPSCreg

iPS-789-C2

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)

Nemaline Myopathy 3

Genetic Information

Genotype Locus

ACTA1

Polymorphism

Heterozygous: NM_001100:c.541G>A(p.Asp179Asn)

Associated Publications

Journal	Year	Article
Stem cell research	2021	Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene
Stem Cell Research	2021	Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 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

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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: 2020

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: ACTA1

Polymorphism: Heterozygous: NM_001100:c.541G>A(p.Asp179Asn)

Quality Assurance

Genomic Characterisation

Passage Number: 14

Karyotype: 47,XX?del(X)(p21)

Karyotype Method: G-banding

Summary: Karyotyping by G-banding occurred at passage 10. At least 8 metaphase spreads were analysed.

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.