Description:
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
LAMININ, ALPHA-2; LAMA2
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Repository
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No Data
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
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License Required
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No Data
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| Class |
Congenital Muscle Diseases |
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Sample Source
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No Data
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Subject Type
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No Data
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Family Type
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No Data
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Ethnicity
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No Data
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Family Member
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No Data
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Genetic Data
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No Data
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| PDL at Freeze |
3.5 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 1 |
; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A |
| Identified Mutation |
2049_2050delAG |
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| Gene |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 2 |
156225.0008; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A |
| Identified Mutation |
ARG2578TER |
| Cumulative PDL at Freeze |
3.5 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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