GM23629
LCL from B-Lymphocyte
Description:
OCULOPHARARYNGEAL MUSCULAR DYSTROPHY; OPMD
POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
FRENCH CANADIAN
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
PABPN1 |
| Chromosomal Location |
14q11.2-q13 |
| Allelic Variant 1 |
602279.0001; OCULOPHARYNGEAL MUSCULAR DYSTROPHY |
| Identified Mutation |
(GCG)n EXPANSION, (GCG)8-13 |
| |
| 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 age 47 years; mild bilateral ptosis; poor ability to swallow cold liquids; some weakness in legs; difficulty walking on her heels; PABP2 gene testing revealed one allele with 9 GCG repeats (expanded) and one allele with 6 GCG repeats (normal); Family history: mother, maternal aunt, two maternal cousins; maternal grandmother (and many of maternal grandmother’s siblings) are also affected. |
| Split Ratio |
1:5 |
| 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 |
- |
|