GM23611
Fibroblast from Skin, Unspecified
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 |
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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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Fibroblast from Skin, Unspecified
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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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Family Member
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3
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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 |
2.95 |
| Passage Frozen |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; myopathy; brittle bones; fractured left femur at age 15 years roller skating; clotting disorder with platelet aggregation studies showing a possible storage pool disorder, not von Willebrand disease; difficulty walking up stairs; bone densitometry of lumbar spine and femoral neck showed osteopenia without evidence of osteoporosis; treatments include physical and occupational therapy; affected sister- GM23612, GM23613; affected father- GM23614; two affected cousins- GM23620, GM23621 and GM23622, GM23623; see GM23610 lymphoblast; |
| 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 |
| Cumulative PDL at Freeze |
6.98 |
| Passage Frozen |
3 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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