HPIi013-A

Not yet reviewed by Australian Stem Cell Registry

Alternative Names: OPDM_ABCD3

Details

Description

This entry will be further curated when additional information becomes available.

Tissue & Disease as reported

Disease as reported (Donor)
oculopharyngodistal myopathy

Genetic Information

No genetic information available for this cell line

Associated Publications

No available publications

Line Custodianship

Cell Line Maintainer

Harry Perkins Institute of Medical Research

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

Harry Perkins Institute of Medical Research

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

Source

Donor Derived

Age: 75-79

Biological Sex: Male

Disease: MONDO:0025193
Label: oculopharyngodistal myopathy
Definition: Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: N/A

Source Cell Origin: N/A

Derivation Year:

Ethics

Ethics Number: Holding Entry-HPIi013-A

Institution Human Research Ethics Council: Holding Entry

Approval Date: None

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number:

Karyotype:

Karyotype Method:

Microbiology and Virology Screening

No available data for this cell line.

Characterisation of Undifferentiated Cells

No available data for this cell line.

Scorecard Results

Undifferentiated Cells

No available data for this cell line.

Pluripotency

No available data for this cell line.

Pluripotency Characterisation

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: Not recorded/supplied

O2 concentration: Not recorded/supplied

Medium Items: