HPIi002-A

Flagged for further review

Alternative Names: iPS-789-C1

Details

Description

This induced pluripotent stem cell line was derived by using sendai viral vectors to reprogram an immortalised lymphoblastoid cell line generated from a female Nemaline Myopathy 3 patient. HPIi002-A is described as having a complete duplication of Chromosome X and a heterozygous variant in the ACTA1 gene. The donor lymphoblastoid cell line carries the ACTA1 variant and was described as karyotypically normal in early passages, but prone to X chromosome duplication. Expression of OCT4, NANOG, SOX2, CRIPTO, TRA-1-60 and SSEA-4 in undifferentiated cells, and directed differentiation to endoderm, mesoderm and ectoderm have been reported.

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)
congenital myopathy 2a, typical, autosomal dominant

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

Line Custodianship

Cell Line Maintainer

Joshua 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

Donor Derived

Age: 10-14

Biological Sex: Female

Disease: MONDO:0008070
Label: congenital myopathy 2a, typical, autosomal dominant
Definition: An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.

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: Not integrated

Vector: Sendai Virus

Ethics

Ethics Number: RA/4/20/1008

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

Approval Date: None

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 14

Karyotype: 47,XXX

Karyotype Method: G-banding

Summary: Karyotyping by G-banding occurred at passage 14. 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
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: In vitro directed differentiation

Markers: GATA4, GATA4, SOX17

Mesoderm

In vitro directed differentiation

Assessed by: In vitro directed differentiation

Markers: TBXT, TBXT, BMP4

Ectoderm

In vitro directed differentiation

Assessed by: In vitro directed differentiation

Markers: OTX2, OTX2, PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: Unavailable

O2 concentration: Unavailable

Medium Items:

  • Base Coat: Growth Factor Reduced Matrigel - Corning
  • Base Medium: mTeSR1 - STEMCELL Technologies
  • Supplement: RevitaCell - Thermo Fisher Scientific Inc.

Passage Method: Enzyme-free cell dissociation