GM05113
LCL from B-Lymphocyte
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
dbGaP |
| Class |
Congenital Muscle Diseases |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX45DEL |
| Remarks |
Clinically affected with Duchenne muscular dystrophy; diagnosed with neuromuscular disease at age one; progressive proximal weakness; calf hypertrophy; normal IQ; at age six there was toe walking, tight heelcords, limited range of motion in ankles and hip extension, good trunk strength, hamstring tightness, lumbar lordosis; by age nine there was a modified Gower's maneuver, gluteal gait, absent deep tendon reflexes, intact antigravity muscles in upper extremities, weakness of lower extremities, quads 2/5, knee extensor 2/5, knee flexors 3/5, weakness to ankle extensor more so than flexion, diminishment of pulmonary function; became wheelchair bound between ages 9 and 11; at age 11 there was progressive weakness in lower extremities, contractures at knees, hips and ankles, bicep and tricep strength grade IV+ bilaterally; ability to raise arms above head without difficulty; affected brother is GM05114/15; son of GM05116/17 (mother) and GM05118/19 (father); elevated CPK at age 1; muscle biopsy at age 10 revealed characteristic picture of a myopathy of the Duchenne muscular dystrophy type; donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR; same donor as GM05112 (fibroblast). |
| 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 |
| 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 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
|
|