GM23623
Fibroblast from Skin, Unspecified
Description:
DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Biopsy Source
|
Unspecified
|
Cell Type
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Fibroblast
|
Tissue Type
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Skin
|
Transformant
|
Untransformed
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Sample Source
|
Fibroblast from Skin, Unspecified
|
Family Member
|
5
|
Family History
|
N
|
Relation to Proband
|
cousin
|
Confirmation
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Clinical summary/Case history
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Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
1.88 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Suspected diagnosis; molecular confirmation testing has not been performed. Subject noticed progressive myopathy onset in her legs at age 40; difficulty climbing hills and stairs; difficulty kneeling and then standing up; unable to run; slight atrophy of distal quadriceps and left buttock; weak neck flexors and deltoids bilaterally; slight waddling gait; fatigue; history of jaw fracture with normal healing; CK at age 45 slightly elevated (250 ng/mL); EMG was normal. Family history: subject’s father had weakness in his arms and legs in his thirties and also had fractures of his femurs; subject’s paternal grandfather had similar arm and leg weakness, but no fractures. Subject has two sons; one son has had three fractures. Neither son has any muscle weakness; subject is the sister of GM23621 (fibro) and cousin of GM23613; see GM23622 for lymphoblast line from this subject. |
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 |
|
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 |
4.98 |
Passage Frozen |
2 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Supplement |
- |
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