GM25477
LCL from B-Lymphocyte
Description:
OCULOPHARARYNGEAL MUSCULAR DYSTROPHY; OPMD
POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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German/French/Native American
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Country of Origin
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USA
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Family History
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Y
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
PABPN1 |
| Chromosomal Location |
14q11.2-q13 |
| Allelic Variant 1 |
602279.0001; OCULOPHARYNGEAL MUSCULAR DYSTROPHY |
| Identified Mutation |
(GCG)n EXPANSION, (GCG)8-13 |
| Remarks |
Clinically affected; diagnosed at 62 years of age by geneticist; onset of symptoms at 50 years of age; drooping eyelids; dysphagia; difficulty swallowing; shortness of breath; difficulty walking, standing for long periods of time, moving from sitting to standing; general muscle weakness, particularly lower body; has had pneumonia on several occasions; assistive device: cane; PCR amplification of the GCG repeat region in the PABP2 (PABPN1) gene from whole blood genomic DNA revealed one allele with 9 GCG repeats (expanded) and one allele with 6 GCG repeats (normal); had eyelid surgery; family history: father also had OPMD with issues with walking, getting out of a chair, getting in and out of vehicles, droopy eyelids (impaired vision, so had two eyelid surgeries) and swallowing (had throat stretched), and was diagnosed with throat cancer; grandfather (father's side) was confined to a wheelchair in his early 60's and had issues with droopy eyelids and swallowing; sister had issues with her eyelids, but does not have other symptoms; mother was a diabetic with several health issues who died of congestive heart failure; GCG repeat analysis of the PABP2 (PABPN1) gene in the father (not in repository) also revealed one allele with 9 GCG repeats (expanded) and one allele with 6 GCG repeats (normal). |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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