NA24219
DNA from Fibroblast
Description:
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
LAMININ, ALPHA-2; LAMA2
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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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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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| PDL at Freeze |
1.58 |
| Passage Frozen |
3 |
| |
| 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 |
| Identified Mutation |
3976C>T |
| |
| Gene |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 2 |
; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT |
| Identified Mutation |
939_940delAT |
| Remarks |
Clinically affected; symptom onset at birth; maximum motor function ever achieved and current motor function: sitting when placed: LAMA2 mutations: 939_940del AT and 3976C>T (Arg1236STOP). |
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