GM23842
LCL from B-Lymphocyte
Description:
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| 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
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Ethnicity
|
IRISH
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; resuscitated immediately after birth; delayed motor development with hypertonia; had to be resuscitated during her pregnancy and remained throughout with a tracheotomy; diagnosed at age 36 years of age; on 3,4-diaminopyridine; sometimes uses a wheelchair; downturned mouth; facial diplegia; tongue protrudes in midline and palate elevates bilaterally; atrophy of limb girdle musculature; hyperlordosis of back; uses CPAP at night for obstructive sleep apnea; increased fatigue and decreased stamina; right eye ptosis; some incontinence; mild conversational dyspnea; difficulty swallowing; normal EEG; one brother died shortly after birth of SIDS |
| NCBI GTR |
254210 MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 |
| OMIM |
254210 MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 |
| Omim Description |
CONGENITAL MYASTHENIC SYNDROME Ia |
| |
MYASTHENIA GRAVIS, AUTOSOMAL RECESSIVE; MGI |
| |
MYASTHENIA GRAVIS, FAMILIAL INFANTILE; FIMG |
| |
MYASTHENIA, CONGENITAL, INCLUDED |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
- |
|
|