GM23670
LCL from B-Lymphocyte
Description:
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
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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 |
| Class |
Congenital Muscle Diseases |
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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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Country of Origin
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USA
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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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Clinical summary/Case history
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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 |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 1 |
; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A |
| Identified Mutation |
7491delA |
| |
| Gene |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 2 |
; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A |
| Identified Mutation |
8244+3_+6delAAGT |
| Remarks |
Clinically affected; holds head up without assistance; turns in bed without assistance; sits without assistance; able to bottom scoot at 8 years of age; history of several pneumonias; mild LV enlargement and LV systolic dysfunction; poor appetite, excessive weight loss; seizures starting at age 11;diagnostic muscle biopsy showed: abundant fiber atrophy with some internalized nuclei and some regenerating fibers, abundant proliferation of connective tissue with some areas of fiber regeneration and necrosis; IHC showed complete absence of merosin staining; CPK:1065 IU/L; abnormal MRI/CT scan of the brain; heterozygous for the causative mutation in exon 54 of the LAMA2 gene, c.7491delA, p.Asp2498IlefsStop49; heterozygous for a previously undocumented variant in the exon 59/intron 58 junction in the LAMA2 gene, c.8244+3_+6delAAGT. |
| Split Ratio |
1:5 |
| 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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