HPIi001-A

Not yet reviewed by Australian Stem Cell Registry

iPS-6303-C6B3

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)
congenital myopathy 2a, typical, autosomal dominant

Genetic Information

Genotype Locus
ACTA1
Polymorphism
Heterozygous: NM_001100:c.553C>A(p.Arg183Ser)

Associated Publications

Journal Year Article
Stem cell research 2021 Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene
Stem Cell Research 2021 Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.

Line Custodianship

Cell Line Maintainer

Clayton

Affiliated Institutions
  • Harry Perkins Institute of Medical Research, Nedlands, Australia
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: congenital myopathy 2a, typical, autosomal dominant

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: No

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

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 10

Karyotype: 46,XX

Karyotype Method: Other

Summary: Karyostat analysis (minimum resolution: 1 MB (losses); 2 MB (gains), 5 MB (LOH/AOH)).

STR analysis Results:

Performed but not available.

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

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

Markers: GATA4

Mesoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: Brachyury

Ectoderm

In vitro directed differentiation

Assessed by: Immunostaining

Markers: OTX2

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: Unavailable

O2 concentration: Unavailable

Medium Items:

  • Base Medium: mTeSR1 - STEMCELL Technologies
  • Base Coat: Growth Factor Reduced Matrigel - Corning

Passage Method: Enzyme-free cell dissociation

External References

Source
Stem cell research Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene
Stem Cell Research Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.
hPSCreg HPIi001-A
Cellosaurus CVCL_A5FA
BioSamples SAMEA114558319
Wikidata Q107115356
Phenomics Australia Phenomics Australia