NA24588
DNA from Fibroblast
Description:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5
FUKUTIN-RELATED PROTEIN; FKRP
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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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Cell Type
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Fibroblast
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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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ITALIAN/EASTERN EUROPEAN
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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
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proband
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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 |
3.06 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
FKRP |
| Chromosomal Location |
19q13.3 |
| Allelic Variant 1 |
606596.0004; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 |
| Identified Mutation |
c.826C>A |
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| Gene |
FKRP |
| Chromosomal Location |
19q13.3 |
| Allelic Variant 1 |
p.Arg291LysfsStop137; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 |
| Identified Mutation |
c.872delA |
| Remarks |
Clinically affected; symptom onset at age 2; maximum motor function achieved: jumping; subject is heterozygous for a c.826 C>A (Leu276Ile) mutation in exon 4 of the FKRP gene and heterozygous for a c.872delA (Lys291ArgfsStop137) mutation in exon 4 of the FKRP gene. |
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