Description:
DYSTROPHIA MYOTONICA 1; DM1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
IRAQI
|
|
Family Member
|
2
|
|
Family History
|
N
|
|
Relation to Proband
|
son
|
|
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 |
DMPK |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
605377.0001; MYOTONIC DYSTROPHY |
| Identified Mutation |
(CTG)n EXPANSION; The consistent genetic defect associated with myotonic dystrophy is an amplified trinucleotide CTG repeat in the 3-prime untranslated region of the serine-threonine kinase gene DMK on 19q. Unaffected individuals have between 5 and 27 copies. DM patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases. |
| Remarks |
Clinically affected; affected mother is GM23358; using ankle brace at age 1 year; on ventilator for four weeks after birth; difficulty swallowing; facial weakness; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 1700-1800 in the DMPK gene |
| De Serres-Bérard T, Jauvin D, Pouliot V, Puymirat J, Chahine M, Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy Stem cell research77:103430 2024 |
| PubMed ID: 38704930 |
| NCBI GTR |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| OMIM |
160900 MYOTONIC DYSTROPHY 1; DM1 |
| Omim Description |
DM PROTEIN KINASE, INCLUDED |
| |
DYSTROPHIA MYOTONICA; DM |
| |
DYSTROPHIA MYOTONICA; DMPK |
| |
MYOTONIC DYSTROPHY |
| |
MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED |
| |
MYOTONIN-PROTEIN KINASE, INCLUDED |
| |
STEINERT DISEASEDM-KINASE, INCLUDED; DMK, INCLUDED |
|