GM05169
Fibroblast from Skin, Unspecified
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
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.58 |
| Passage Frozen |
4 |
| |
| 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 |
EX4-43DEL |
| Remarks |
Clinically affected with Duchenne muscular dystrophy; diagnosis made at age 5 or earlier; calf hypertrophy; progressive weakness; wheelchair bound by age 9 1/2; by age 9 there was muscle weakness, mild scoliosis, ankle contractures; by age 10 there was cardiomyopathy; son of GM05174 (mother) and GM05172 (father); elevated CPK; muscle biopsy characteristic of Duchenne muscular dystrophy; donor subject has a deletion of exons 4-43 in the dystrophin gene as determined by multiplex PCR; same donor as GM05170 Lymphoid |
| Marcella BM, Hockey BL, Braun JL, Whitley KC, Geromella MS, Baranowski RW, Watson CJF, Silvera S, Hamstra SI, Wasilewicz LJ, Crozier RWE, Marais AAT, Kim KH, Lee G, Vandenboom R, Roy BD, MacNeil AJ, MacPherson REK, Fajardo VA, GSK3 inhibition improves skeletal muscle function and whole-body metabolism in male mouse models of Duchenne muscular dystrophy Nature communications15:10210 2023 |
| PubMed ID: 39587049 |
| |
| 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 |
| dbSNP |
dbSNP ID: 20969 |
| 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 |
4 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|