Description:
DYSTROPHIA MYOTONICA 1; DM1
APPARENTLY HEALTHY INDIVIDUAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Class |
Disorders with Trinucleotide Expansions |
| Alternate IDs |
GM18013 [DYSTROPHIA MYOTONICA 1; DM1] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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Family Member
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3
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Relation to Proband
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spouse
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Confirmation
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Molecular characterization after 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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| CTG TRINUCLEOTIDE REPEAT EXPANSION ANALYSIS |
Mutational analysis of DNA from this unaffected mother of a subject with myotonic dystrophy performed by Dr. Robert G. Korneluk, Molecular Genetics Laboratory, Children's Hospital of Eastern Ontario, Canada, showed that there was no expanded allele on genomic Southerns or by PCR typing. |
| |
| Remarks |
Clinically normal; mother of GM03696C; wife of GM03759A Fibro (proband); no visible expansion of CTG repeat by Southern analysis |
| Leferink M, Wong DPW, Cai S, Yeo M, Ho J, Lian M, Kamsteeg EJ, Chong SS, Haer-Wigman L, Guan M, Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test Scientific reports9:8280 2019 |
| PubMed ID: 31164682 |
| |
| Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA,
Swanson MS, Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with
myotonic dystrophy. EMBO J19(17):4439-48 2000 |
| PubMed ID: 10970838 |
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