NA23613
DNA from Fibroblast
Description:
DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable 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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Not Hispanic/Latino
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Ethnicity
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GERMAN/SCOTTISH
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Country of Origin
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USA
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Family Member
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2
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Family History
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Y
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Relation to Proband
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daughter
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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 |
2.06 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; developed proximal limb girdle weakness of her thighs at 31 years of age; subject also diagnosed with von Willebrand disease at age 18 based on easy bruising, vessel fragility and abnormal von Willebrand factor; history of: right femur fracture; poor balance; herniated disc; diabetes; hair graying at age 30; hypotonia; myopathy; muscle pain; osteomyelitis; bone fragility; heart murmur; high blood pressure; high cholesterol; diverticulitis; muscle biopsy showed extensive areas of fat replacemtn of muscle, and groups of atrophic fibers present; uses wheelchair; receives physical and occupational therapy; family history: affected sister (GM23611) and affected father (GM23614 lymphoblast); see GM23612 for lymphoblast line from this subject. |
| Camacho-Vanegas O, Camacho SC, Till J, Miranda-Lorenzo I, Terzo E, Ramirez MC, Schramm V, Cordovano G, Watts G, Mehta S, Kimonis V, Hoch B, Philibert KD, Raabe CA, Bishop DF, Glucksman MJ, Martignetti JA, Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts American journal of human genetics90:614-27 2011 |
| PubMed ID: 22464254 |
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| Mehta SG, Watts GD, McGillivray B, Mumm S, Hamilton SJ, Ramdeen S, Novack D, Briggs C, Whyte MP, Kimonis VE, Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy American journal of medical genetics Part A140:322-30 2006 |
| PubMed ID: 16419137 |
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| Watts GD, Mehta SG, Zhao C, Ramdeen S, Hamilton SJ, Novack DV, Mumm S, Whyte MP, Mc Gillivray B, Kimonis VE, Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome Human genetics118:508-14 2005 |
| PubMed ID: 16244874 |
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| HENRY EW, AUCKLAND NL, McINTOSH HW, STARR DE, Abnormality of the long bones and progressive muscular dystrophy in a family Canadian Medical Association journal78:331-6 1958 |
| PubMed ID: 13511301 |
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