GM24523
LCL from B-Lymphocyte
Description:
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NEBULIN; NEB
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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IRISH/GERMAN
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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
; |
| Identified Mutation |
c.12018+1G>A |
| |
| Gene |
NEB |
| Chromosomal Location |
2q23.3 |
| Allelic Variant 1 |
frameshift; |
| Identified Mutation |
c.24458_24461dupAGAT |
| Remarks |
Clinically affected; onset of symptoms at birth; drooling; poor weight gain; hypoventilation; BIPAP while sleeping and as needed; cough assist twice daily; at 9 months of age, donor achieved/maintains without assistance: holds up head, turns in bed; maximum motor function: sits unassisted;creatine kinase: 37 umol/L; gDNA was amplified and sequenced for full coding regions of NEB, SEPN1, and TPM3 and ~50 bases of flanking non-coding sequences; subject is compound heterozygous for the following mutations in the NEB gene: c.12018+1G>A (at the junction of exon 80 and intron 80) and c.24458_24461dupAGAT (p.Met8154IlefsStop13, exon 173). |
| Split Ratio |
1:4 |
| 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 |
- |
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