Description:
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
LAMIN A/C; LMNA
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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
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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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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English, Swedish, Irish
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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
|
proband
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Confirmation
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Molecular 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 |
LMNA |
| Chromosomal Location |
1q21.2 |
| Allelic Variant 1 |
p.Arg249Trp; |
| Identified Mutation |
c.745C>T |
| Remarks |
Clinically affected; current and maximum motor function includes holding head up when sitting; current motor function also includes sitting when placed; heart is affected; heterozygous genetic mutation found in exon 4 of LMNA gene c.745C>T (p.Arg249Trp); BiPAP used most/all nights for less than 12 hours. |
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