GM25173
LCL from B-Lymphocyte
Description:
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific
PIGI Consented Sample |
| 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
|
More than one race
|
|
Ethnicity
|
Black/African American, White/Caucasian
|
|
Country of Origin
|
USA
|
|
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 |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
c.3255+1G>A |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
p.Arg8218Serfs*9; NEMALINE MYOPATHY 2 (NEM2) |
| Identified Mutation |
c.24654_24655delAG |
| Remarks |
Clinically affected; onset of symptoms at 2 years of age; motor functions achieved and maintained: head held up without assistance, turned in bed without assistance, sat without assistance, stood without assistance, walked indoors and outdoors without assistance, climbed 4 stairs with a handrail; sequencing of the NEB gene revealed that subject is heterozygous for two pathogenic mutations: c.3255+1G>A near exon 32 and c.24654_24655delAG in exon 175, predicted to result in a frameshift and premature protein termination (p.Arg8218Serfs*9). |
| 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 |
- |
|