NA23310
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 |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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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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GERMAN
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Family Member
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3
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Family History
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N
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Relation to Proband
|
father
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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 |
3.94 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
LAMA2 |
| Chromosomal Location |
6q22-q23 |
| Allelic Variant 1 |
156225.0008; MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A |
| Identified Mutation |
ARG2578TER |
| Remarks |
Clinically normal father of an affected child (GM23311); donor subject is heterozygous for a C>T transition at nucleotide 7732 in exon 55 (7732C>T) resulting in a premature stop at codon 2578 [Arg2578Ter (R2578X)] |
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