Description:
MYOPATHY, CONGENITAL; TYPE UNKNOWN
TITIN; TTN
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Muscle
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
British, Czech, German
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.44 |
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
TTN |
| Chromosomal Location |
2q31.2 |
| Allelic Variant 1 |
; MYOPATHY, CENTRONUCLEAR, 1 |
| Identified Mutation |
c.35794C>A |
| Remarks |
Subject is clinically affected; Ullrich CMD phenotype, titin-related CMD; CMD confirmed with muscle biopsy; no microcephaly or macrocephaly; achieved all of the following and still maintains without assistance: held up head, turned in bed, sat at 18 months, stood at 6 years; walked at 4 years; difficulty with stairs, not able to run. |
| Cumulative PDL at Freeze |
5.44 |
| Passage Frozen |
3 |
| 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 |
- |
|