Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
dbGaP |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
|
ISCN
|
46,XY[19]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.68 |
| Passage Frozen |
13 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
| |
| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX45-50DEL |
| Remarks |
Clinically affected; Canadian Repository #466; negative family history; walked at age 20 1/2 months; talked at 30 months; difficulty walking up stairs and difficulty running noted since age 3; wide-based and waddling gait; Gower's maneuver; depressed reflexes; wasting of shoulder muscles and slight thigh wasting; decreased muscle tone, particularly in the legs; progressive proximal muscle weakness; relatively normal strength in distal muscles; calf hypertrophy; scoliosis; lumbar lordosis; grade 2/6 systolic ejection heart murmur; elevated CPK's ranging from 5,150 to 17,090; EMG picture is consistent with DMD; EKG at age 6 suggested right ventricular enlargement or combined ventricular enlargement; muscle biopsy showed typical changes of DMD; PCR analysis of dystrophin gene shows deletion of exons 45 to 50; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 45-50 |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| |
| Liu J, Hu J, Corey DR, Expanding the action of duplex RNAs into the nucleus: redirecting alternative splicing Nucleic acids research40:1240-50 2011 |
| PubMed ID: 21948593 |
| |
| Goldman D, Goldin LR, Rathnagiri P, O'Brien SJ, Egeland JA, Merril CR, Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees. Am J Hum Genet37:898-911 1985 |
| PubMed ID: 3863481 |
| |
| Pato CN, Davis MH, Doughty MJ, Bryant SH, Gruenstein E, Increased membrane permeability to chloride in Duchenne muscular dystrophy fibroblasts and its relationship to muscle function. Proc Natl Acad Sci U S A80:4732-6 1983 |
| PubMed ID: 6576355 |
| |
| Davis MH, Gelman BB, Gruenstein E, Decreased structure-linked latency of lysosomal dipeptidyl aminopeptidase-I activity in Duchenne muscular dystrophy fibroblasts. Neurology32:486-91 1982 |
| PubMed ID: 7200205 |
| |
| Davis MH, Pato CN, Grinvalsky H, Gruenstein E, Identification of a biochemical difference between male and female human fibroblasts: implications for the expression of Duchenne muscular dystrophy. Neurology32:951-7 1982 |
| PubMed ID: 7202167 |
| |
| Rosenmann, Analysis of fibroblast proteins from patients with Duchenne muscular dystrophy by two-dimensional gel electrophoresis. Nature298:563 (1982):951-7 1982 |
| PubMed ID: 7202167 |
| |
| Gelman BB, Papa L, Davis MH, Gruenstein E, Decreased lysosomal dipeptidyl aminopeptidase I activity in cultured human skin fibroblasts in Duchenne's muscular dystrophy. J Clin Invest65:1398-406 1980 |
| PubMed ID: 6773986 |
| |
| Pena SD, Vust A, Tucker D, Hamerton JL, Wrogemann K, Biochemical investigations in cultured skin fibroblasts from patients with Duchenne muscular dystrophy. Clin Genet14:50-4 1978 |
| PubMed ID: 679522 |
| dbSNP |
dbSNP ID: 16436 |
| Gene Cards |
DMD |
| Gene Ontology |
GO:0003779 actin binding |
|
GO:0005200 structural constituent of cytoskeleton |
|
GO:0005509 calcium ion binding |
|
GO:0005856 cytoskeleton |
|
GO:0006936 muscle contraction |
|
GO:0007016 cytoskeletal anchoring |
|
GO:0007517 muscle development |
|
GO:0008270 zinc ion binding |
|
GO:0016010 dystrophin-associated glycoprotein complex |
| NCBI Gene |
Gene ID:1756 |
| NCBI GTR |
300377 DYSTROPHIN; DMD |
|
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| OMIM |
300377 DYSTROPHIN; DMD |
|
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
| |
BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
| |
CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
| |
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
| Passage Frozen |
13 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|
|