NA23780
DNA from Fibroblast
Description:
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2
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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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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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Not Hispanic/Latino
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Ethnicity
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ENGLISH/DANISH/GERMAN/FRENCH/CANADIAN/IRISH
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Family Member
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1
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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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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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| PDL at Freeze |
4.45 |
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
LMNA |
| Chromosomal Location |
1q21.2 |
| Allelic Variant 1 |
L35P; EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT |
| Identified Mutation |
LEU35PRO |
| Remarks |
Clinically affected; diagnostic muscle biopsy; achieved most motor function milestones and then lost them; donor subject is heterozygous for a de novo T>C transition at nucleotide 104 in exon 1 of the LMNA gene (104T>C) resulting in the substitution of proline for leucine at codon 35 [Leu35Pro (L35P)]. |
| DuBose AJ, Lichtenstein ST, Petrash NM, Erdos MR, Gordon LB, Collins FS, Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts Proceedings of the National Academy of Sciences of the United States of America115:4206-4211 2018 |
| PubMed ID: 29581305 |
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